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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776784

RESUMO

OBJECTIVE@#To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ.@*METHODS@#GCDH gene variants was detected by Sanger sequencing among the three children and their family members.@*RESULTS@#Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c.532G>A (p.Gly178Arg) and c.655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg) and c.655G>A (p.Ala219Thr) variants. Patient 2 carried c.532G>A (p.Gly178Arg) and a novel c.1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c.532G>A (p.Gly178Arg) and c.1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c.532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers.@*CONCLUSION@#The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Genética , Encefalopatias Metabólicas , Genética , Feminino , Glutaril-CoA Desidrogenase , Genética , Heterozigoto , Humanos , Masculino
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771958

RESUMO

OBJECTIVE@#To review the clinical features of a male twin affected with glutaric academia type I (GA-I) and analyze the variations of glutaryl-CoA dehydrogenase (GCDH) gene.@*METHODS@#Clinical data of the pair of twins and their parents were collected. Genomic DNA was extracted from peripheral blood samples, and variants of GCDH genes were detected by capture sequencing using a customized panel. Variants of the twins and their parents were verified by Sanger sequencing.@*RESULTS@#The level of glutaric acyl carnitine (C5DC + C6OH) was 3.26 μmol/L in the male twin. The relative level of glutaric acid in urine was 547.51 by gas chromatography mass spectrometry analysis. Cerebral ultrasonography showed that the patient had subependymal hemorrhage, but no serious clinical manifestation was noted. After treating with special formula milk powder and L-carnitine, the boy showed good growth and development. Two heterozygous variants of the GCDH gene were detected in the patient, among which c.416C>G was suspected to be pathogenic, while c.109_110delCA was unreported. The variants were respectively inherited from his parents. The twin girl only carried the c.416C>G variant.@*CONCLUSION@#GA-I can be diagnosed by mass spectrometry, urine gas chromatographic mass spectrometry, imaging as well as genetic diagnosis. Early diagnosis and intervention is important.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Genética , Encefalopatias Metabólicas , Genética , Feminino , Glutaril-CoA Desidrogenase , Genética , Humanos , Masculino , Mutação , Fenótipo
3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-775835

RESUMO

OBJECTIVE@#To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes.@*METHODS@#Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing.@*RESULTS@#The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic.@*CONCLUSION@#Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Diagnóstico , Genética , Encefalopatias Metabólicas , Diagnóstico , Genética , China , Análise Mutacional de DNA , Glutaril-CoA Desidrogenase , Genética , Humanos , Mutação
4.
Arch. argent. pediatr ; 115(6): 454-457, dic. 2017.
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-887413

RESUMO

El incremento del amonio en sangre, hiperamoniemia, es pasible de provocar compromiso neurológico al atravesar la barrera hematoencefálica. La causa más frecuente y conocida de hiperamoniemia es la alteración en la función hepática. Sin embargo, se deben considerar otras patologías, de menor frecuencia y poco conocidas. La infección del tracto urinario por gérmenes productores de ureasa debe ser contemplada a pesar de ser infrecuente en pediatría. Se reporta el caso de un niño con encefalopatía aguda grave, con niveles elevados de amonio en sangre, en quien, luego de descartar otros diagnósticos diferenciales, se asumió el cuadro como hiperamoniemia secundaria a infección del tracto urinario por Corynebacterium riegelii, un germen productor de ureasa. Se implementaron medidas generales de tratamiento para la encefalopatía hiperamoniémica y tratamiento antibiótico específico, con buena evolución el paciente.


Elevated level of ammonia in the blood, defined as hyperammonemia, is feasible to cause neurological symptoms when crossing the blood-brain barrier. The most frequent and studied cause of hyperammonemia is liver failure. Nevertheless, other less frequent and known etiologies must be considered. Urinary tract infection caused by urea-splitting bacteria, despite being unusual in pediatric patients, must be taken into account. We report a pediatric patient with severe acute encephalopathy and high levels of ammonia in blood. After ruling out other causes of hyperammonemia, it was assumed secondary to urinary tract infection by Corynebacterium riegelii, a ureasplitting bacteria. General treatment for hyperammonemic encephalopathy was established, as well as specific treatment with antibiotics. The patient evolved favorably.


Assuntos
Humanos , Masculino , Pré-Escolar , Ureia/metabolismo , Infecções Urinárias/complicações , Encefalopatias Metabólicas/etiologia , Infecções por Corynebacterium/complicações , Hiperamonemia/etiologia , Infecções Urinárias/microbiologia , Infecções por Corynebacterium/metabolismo
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-56119

RESUMO

We aimed to analyze characteristics of encephalopathy after both hematopoietic stem cell and solid organ pediatric transplantation. We retrospectively reviewed medical records of 662 pediatric transplant recipients (201 with liver transplantation [LT], 55 with heart transplantation [HT], and 67 with kidney transplantation [KT], 339 with allogeneic hematopoietic stem cell transplantation [HSCT]) who received their graft organs at Asan Medical Center between January 2000 and July 2014. Of the 662 patients, 50 (7.6%) experienced encephalopathy after transplantation. The incidence of encephalopathy was significantly different according to the type of organ transplant: LT, 16/201 (8.0%), HT, 13/55 (23.6%), KT, 5/67 (7.5%), and HSCT, 16/339 (4.7%) (P < 0.001). Drug-induced encephalopathy (n = 14) was the most common encephalopathy for all transplant types, but particularly after HSCT. Hypertensive encephalopathy was the most common after KT and HT, whereas metabolic encephalopathy was the most common after LT. The median time to encephalopathy onset also differed according to the transplant type: 5 days after KT (range 0–491 days), 10 days after HT (1–296 days), 49.5 days after HSCT (9–1,405 days), and 39 days after LT (1–1,092 days) (P = 0.018). The mortality rate among patients with encephalopathy was 42.0% (n = 21/50). Only 5 patients died of neurologic complications. Transplant-associated encephalopathy presented different characteristics according to the type of transplant. Specialized diagnostic approach for neurologic complications specific to the type of transplant may improve survival and quality of life in children after transplantation.


Assuntos
Encefalopatias , Encefalopatias Metabólicas , Criança , Coração , Transplante de Coração , Transplante de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Humanos , Encefalopatia Hipertensiva , Incidência , Rim , Transplante de Rim , Fígado , Transplante de Fígado , Registros Médicos , Mortalidade , Qualidade de Vida , Estudos Retrospectivos , Transplantados , Transplante , Transplantes
6.
Intestinal Research ; : 124-129, 2017.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-47070

RESUMO

Metronidazole is a widely used antibiotic for the treatment of anaerobic bacterial infections. Metronidazole-induced encephalopathy (MIEP) is a rare but potentially reversible disease. The mechanism of MIEP remains unclear, and differences in the neurotoxic effects of oral versus intravenous (IV) metronidazole administration have not yet been determined. We report the case of a Crohn's disease (CD) patient who experienced encephalopathy immediately after a single IV dose of metronidazole following long-term exposure to the oral form of the drug. The 64-year-old man with intractable CD experienced a sudden change in mental status, aphasia, and muscle weakness after IV administration of metronidazole. He had previously taken metronidazole orally for 13 years and received intermittent IV metronidazole treatments for CD exacerbation. Brain magnetic resonance imaging (MRI) showed high-intensity signals in the bilateral medial thalamus and the midbrain and pontine tegmentum on fluid-attenuated inversion recovery images. After discontinuation of metronidazole, the high-intensity brain MRI signals resolved and the patient's mental status dramatically improved; however, the patient exhibited mild cognitive dysfunction 2 months after the onset of encephalopathy.


Assuntos
Afasia , Infecções Bacterianas , Encéfalo , Encefalopatias , Encefalopatias Metabólicas , Doença de Crohn , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Imagem por Ressonância Magnética , Mesencéfalo , Metronidazol , Pessoa de Meia-Idade , Debilidade Muscular , Tegmento Pontino , Tálamo
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-193547

RESUMO

Methanol poisoning results in neurological complications including visual disturbances, bilateral putaminal hemorrhagic necrosis, parkinsonism, cerebral edema, coma, or seizures. Almost all reported cases of methanol poisoning are caused by oral ingestion of methanol. However, recently there was an outbreak of methanol poisoning via non-oral exposure that resulted in severe neurological complications to a few workers at industrial sites in Korea. We present 3 patients who had severe neurological complications resulting from non-oral occupational methanol poisoning. Even though initial metabolic acidosis and mental changes were improved with hemodialysis, all of the 3 patients presented optic atrophy and ataxia or parkinsonism as neurological complications resulting from methanol poisoning. In order to manage it adequately, as well as to prevent it, physicians should recognize that methanol poisoning by non-oral exposure can cause neurologic complications.


Assuntos
Acidose , Ataxia , Encefalopatias Metabólicas , Edema Encefálico , Coma , Ingestão de Alimentos , Humanos , Coreia (Geográfico) , Metanol , Necrose , Manifestações Neurológicas , Atrofia Óptica , Transtornos Parkinsonianos , Envenenamento , Diálise Renal , Convulsões
8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-297164

RESUMO

<p><b>OBJECTIVE</b>To investigate the effect of glutaryl-CoA dehydrogenase (GCDH) gene silencing and accumulation of lysine metabolites on the viability of hepatocytes.</p><p><b>METHODS</b>BRL cells were divided into normal control group, negative control group, and GCDH silencing group. The shRNA lentiviral vector for silencing GCDH gene was constructed, and the BRL hepatocytes in the GCDH silencing group and the negative control group were infected with this lentivirus and negative control virus respectively, and then cultured in a medium containing 5 mmol/L lysine. Immunofluorescence assay was used to measure the infection efficiency of lentivirus. Western blot was used to measure the expression of GCDH protein. MTT assay was used to evaluate cell viability. Hoechest33342 staining was used to measure cell apoptosis. Western blot was used to measure the expression of Caspase-3, an index of cell apoptosis.</p><p><b>RESULTS</b>The lentivirus constructed effectively silenced the GCDH gene in hepatocytes (P<0.01). MTT assay and Hoechest 33342 staining showed no significant differences in cell viability and apoptosis between groups (P>0.05). There was also no significant difference in the expression of Caspase-3 protein between groups (P>0.05).</p><p><b>CONCLUSIONS</b>GCDH gene silencing and accumulation of lysine metabolites may not cause marked hepatocyte injury.</p>


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Patologia , Terapêutica , Animais , Apoptose , Encefalopatias Metabólicas , Patologia , Terapêutica , Caspase 3 , Metabolismo , Sobrevivência Celular , Células Cultivadas , Imunofluorescência , Inativação Gênica , Glutaril-CoA Desidrogenase , Genética , Hepatócitos , Patologia , Lisina , Metabolismo , Ratos
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-261215

RESUMO

A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy, inherited metabolic diseases should be considered.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Encefalopatias Metabólicas , Deficiências do Desenvolvimento , Feminino , Glutaril-CoA Desidrogenase , Doença de Mão, Pé e Boca , Humanos , Lactente , Anormalidade Torcional
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-261209

RESUMO

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages of the clinical onset of the patients range from the fetus period to adulthood. The patients with mild glutaric aciduria type 1 are almost asymptomatic before onset, however, severe glutaric aciduria type 1 may cause death or disability due to acute encephalopathy. Acute metabolic crisis in patients with underlying glutaric aciduria type 1 is often triggered by febrile illnesses, trauma, hunger, high-protein foods and vaccination during a vulnerable period of brain development in infancy or early childhood. The early-onset patients usually have a poor prognosis. Urinary organic acids analysis, blood acylcarnitines analysis and GCDH study are important for the diagnosis of this disorder. Neonatal screening is essential for the early diagnosis and the improvement of prognosis.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Diagnóstico , Genética , Terapêutica , Encefalopatias Metabólicas , Diagnóstico , Genética , Terapêutica , Genótipo , Glutaril-CoA Desidrogenase , Genética , Humanos , Recém-Nascido , Triagem Neonatal , Fenótipo , Diagnóstico Pré-Natal , Prognóstico
11.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-34974

RESUMO

5-Fluorouracil (5-FU) based chemotherapy has been commonly used to treat metastatic or advanced colon cancer as an adjuvant chemotherapy. Although the side effects of 5-FU such as gastrointestinal problems and neutropenia and thrombocytopenia are common, not many cases of 5-FU related encephalopathy are reported. Hyperammonemic encephalopathy is a rare central nervous system toxicity following 5-FU chemotherapy manifesting as altered mental status with elevated ammonia levels with no radiologic abnormality. We report one case of 5-FU induced hyperammonemic encephalopathy occurring after Folfox4 (oxaliplatin, folinic acid and 5-fluorouracil) chemotherapy in a colon cancer patient who presented with confused mental status soon after the chemotherapy and review the 5-FU related encephalopathy.


Assuntos
Amônia , Encefalopatias Metabólicas , Sistema Nervoso Central , Quimioterapia Adjuvante , Neoplasias do Colo , Tratamento Farmacológico , Fluoruracila , Humanos , Hiperamonemia , Leucovorina , Neutropenia , Trombocitopenia
13.
Anaesthesia, Pain and Intensive Care. 2015; 19 (2): 173-180
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-166452

RESUMO

Glutaric aciduria type-1 [GA-1] is an autosomal recessive metabolic disorder due to the deficiency of the enzyme glutaryl-CoA dehydrogenase. The enzymatic defect leads to secondary damage to the central nervous system due to the accumulation of glutaric acid. Progressive neurologic effects with spasticity and orthopedic deformities necessitate frequent surgical and anesthetic care. We present a 13-year-old girl with glutaric academia type-1 who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement discussed, and options for anesthetic care presented


Assuntos
Feminino , Humanos , Adolescente , Encefalopatias Metabólicas , Glutaril-CoA Desidrogenase/deficiência , Assistência Perioperatória
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-239508

RESUMO

<p><b>OBJECTIVE</b>To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.</p><p><b>METHODS</b>All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.</p><p><b>CONCLUSION</b>IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.</p>


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Diagnóstico por Imagem , Genética , Sequência de Aminoácidos , Grupo com Ancestrais do Continente Asiático , Genética , Sequência de Bases , Encefalopatias Metabólicas , Diagnóstico por Imagem , Genética , Análise Mutacional de DNA , Éxons , Feminino , Glutaril-CoA Desidrogenase , Química , Genética , Metabolismo , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Dados de Sequência Molecular , Mutação Puntual , Radiografia , Alinhamento de Sequência
15.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 187-192
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154335

RESUMO

Glutaric acidemia type 1 [GA1] was thought to be a rare disorder in Arab countries. Recently, a relatively large number of patients with GA1 have been detected in Egypt. The aim of this work was to: [1] find out the commonest clinical characteristics of the disease among Egyptians presenting with GA1; [2] delineate the demographic factors that may lead to a high prevalence of GA1 among Egyptians; [3] Recommend the most suitable strategy to screen for the disease. The study included all patients with GA1 who presented at The Genetics Unit, Ain Shams University Hospital [GUASH] during the last three years. The information about patients with GA1 including the epidemiological and clinical data was obtained retrospectively from patients' files. The authors surveyed data of 26 patients in 23 families who were personally examined and the diagnosis was confirmed by laboratory data. The mean age of onset of symptoms was 5.8 +/- 2.2 months: the mean delay in establishing the diagnosis was 11.73 +/- 13.97 months. At the onset of symptoms, macrocephaly [85%] was the commonest feature of GAI followed by dystonia [69%], and persistent convulsions [50%]. Onset of symptoms occurred during an acute febrile illness in 68% of patients, which was associated with the worst forms of dystonia [X2 = 12.5, p =0.14]. The frequency of affected Christian families among all affected families was 43%, which is significantly higher than that expected of the Christian minority in Egypt [6-15%]. There has been no significant increase in consanguinity among those Christian families [F = 0.014204] pointing to a high gene frequency of GA1 in isolated areas in Upper Egypt. In the absence of mass newborn screening program, continuous Health Education program should be implemented to promote detection of early signs of GA1 such as macro-cephaly before the occurrence of acute crisis of encephalopathy especially in families with history of similar patients. We recommend that a nationwide program of extended tandem mass screening should cover all newborns in Egypt to promote early detection of patients with GA1 and to avoid the severe consequences of the delay in diagnosis


Assuntos
Humanos , Masculino , Feminino , Encefalopatias Metabólicas , Sinais e Sintomas , Consanguinidade , Triagem Neonatal , Recém-Nascido
16.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-121874

RESUMO

Endoscopic retrograde cholangiopancreatography is widely used for diagnosis and treatment of pancreatobiliary diseases and associated with a spectrum of complications such as pancreatitis, hemorrhage, and so on. Endoscopic papillary balloon dilatation (EPBD) has an advantage over endoscopic sphincterotomy in complication of bleeding. We report here on a 68-year-old woman who developed metabolic encephalopathy due to massive bleeding after EPBD. Massive bleeding was controlled after selective embolization and metabolic encephalopathy was improved after conservative management. Metabolic encephalopathy due to massive bleeding after EPBD has not been reported. We report on this unusual case along with a review of the related literatures.


Assuntos
Idoso , Encefalopatias Metabólicas , Colangiopancreatografia Retrógrada Endoscópica , Diagnóstico , Dilatação , Feminino , Hemorragia , Humanos , Pancreatite , Esfinterotomia Endoscópica
17.
Chinese Journal of Pediatrics ; (12): 415-419, 2014.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-345775

RESUMO

<p><b>OBJECTIVE</b>To investigate the clinical, biochemical and genetic profiles of 28 Chinese patients with glutaric aciduria type 1.</p><p><b>METHOD</b>Twenty-eight patients with glutaric aciduria type 1 seen in the Department of Pediatrics, Peking University First Hospital from July 2003 to October 2013 were studied. The data of clinical course, laboratory examinations, cranial MRI and GCDH gene mutations of the patients were analyzed.</p><p><b>RESULT</b>(1) Three cases were detected by newborn screening, and the other patients were diagnosed at the age of 2 months to 17 years. (2) 22 patients (79%) were infant onset cases with psychomotor retardation, dystonia, seizures, athetosis, recurrent vomiting, drowsiness or feeding difficulty. Only two of the 22 patients with infant onset got normal intelligence and movement after treatment. Twenty of them were improved slowly with delayed development, dystonia and other neurological problems. Three patients (11%) had late onset. They had motor regression, headache and seizure at the age of 8, 9 and 17 years, respectively. Rapid improvement was observed after treatment. (3) Cranial MRI has been checked in 23 patients; 22 of them showed characteristic widening of the Sylvian fissure, abnormalities of the basal ganglia, leukoencephalopathy and brain atrophy. Thirty-five mutations in GCDH gene of the patients were identified; c.148T>C (p.W50R) was the most common mutation with the frequency of 7.7%; 6 mutations (c.628A>G, c.700C>T, c.731G>T, c.963G>C, c.1031C>T and c.1109T>C) were novel.</p><p><b>CONCLUSION</b>Glutaric aciduria type 1 usually induced neurological deterioration resulting in severe psychomotor retardation and dystonia. Most of our patients were clinically diagnosed. Patients with early onset usually remained having neurological damage. Phenotype and genotype correlation has not been found in the patients. Neonatal screening for organic acidurias should be expanded in China.</p>


Assuntos
Idade de Início , Erros Inatos do Metabolismo dos Aminoácidos , Diagnóstico , Genética , Metabolismo , Encefalopatias Metabólicas , Diagnóstico , Genética , Metabolismo , Análise Mutacional de DNA , Seguimentos , Cromatografia Gasosa-Espectrometria de Massas , Glutaratos , Urina , Glutaril-CoA Desidrogenase , Genética , Metabolismo , Humanos , Recém-Nascido , Deficiência Intelectual , Patologia , Imagem por Ressonância Magnética , Transtornos dos Movimentos , Patologia , Mutação , Triagem Neonatal , Métodos , Estudos Retrospectivos
18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-156822

RESUMO

BACKGROUND: Triphasic waves are one of the electroencephalographic patterns that can be usually seen in metabolic encephalopathy. The aim of this study is to compare the clinical and electrophysiologic profiles between patients with and without triphasic waves in metabolic encephalopathy, and reassess the significance of triphasic waves in metabolic encephalopathy. METHODS: We recruited 127 patients with metabolic encephalopathy, who were admitted to our hospital. We divided these admitted patients into two groups; those with and without triphasic waves. We analyzed the difference of duration of hospitalization, mortality rate during admission, Glasgow Coma Scale, severity of electroencephalographic alteration, and presence of acute symptomatic seizures between these two groups. RESULTS: Of the 127 patients with metabolic encephalopathy, we excluded 67 patients who did not have EEG, and 60 patients finally met the inclusion criteria for this study. Patients with triphasic waves had more severe electroencephalographic alterations, lower Glasgow Coma Scale, and more acute symptomatic seizures than those without triphasic waves. After adjusting the clinical variables, Glasgow Coma Scale and acute symptomatic seizures were only significantly different between patients with and without triphasic waves. CONCLUSIONS: We demonstrated that patients with triphasic waves in metabolic encephalopathy had more significant impairment of the brain function.


Assuntos
Encéfalo , Encefalopatias Metabólicas , Eletroencefalografia , Escala de Coma de Glasgow , Hospitalização , Humanos , Metabolismo , Mortalidade , Convulsões
19.
Korean Journal of Medicine ; : 501-504, 2014.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-176485

RESUMO

We present a patient with type 2 diabetes mellitus and metastatic renal cell carcinoma who developed severe hypoglycemia and metabolic encephalopathy after sunitinib treatment. Sunitinib, a multi-target tyrosine kinase inhibitor, is used to treat metastatic renal cell carcinoma. Sunitinib-induced hypoglycemia has been reported and there are rare case reports of severe hypoglycemia due to sunitinib. Therefore, glycemic control should be monitored closely in diabetic patients treated with sunitinib.


Assuntos
Encefalopatias Metabólicas , Carcinoma de Células Renais , Coma , Diabetes Mellitus Tipo 2 , Humanos , Hipoglicemia , Proteínas Tirosina Quinases
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-291719

RESUMO

<p><b>OBJECTIVE</b>To review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.</p><p><b>METHODS</b>Clinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Two patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.</p><p><b>CONCLUSION</b>The clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.</p>


Assuntos
Adolescente , Erros Inatos do Metabolismo dos Aminoácidos , Diagnóstico por Imagem , Genética , Sequência de Bases , Encefalopatias Metabólicas , Diagnóstico por Imagem , Genética , China , Análise Mutacional de DNA , Saúde da Família , Feminino , Predisposição Genética para Doença , Genética , Glutaril-CoA Desidrogenase , Genética , Homozigoto , Humanos , Recém-Nascido , Imagem por Ressonância Magnética , Masculino , Mutação , Radiografia
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