ABSTRACT
Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with encephalopathy episode that results in acute basal ganglia and white matter degeneration. The majority of patients develop a dystonic-dyskinetic syndrome. This reports 6year-old boy who had been done previous gastrostomy due to swallowing difficulty underwent bilateral pallidotomy with intraoperative electromyography(EMG) monitoring for disabling dystonia. Intraoperative EMG was used to assess stimulation thresholds required for capsular responses and muscle tone. Surface EMG electrodes were placed on the face and cricopharyngeal muscles. Exact target were directly modified according to MRI-visualized anatomy. EMG response was consistently seen prior to visual observation of muscle activity. The surgery improved dystonic symptoms without swallowing difficulty.
Subject(s)
Humans , Male , Basal Ganglia , Deglutition , Dystonia , Electrodes , Gastrostomy , Glutaryl-CoA Dehydrogenase , Hydroxylysine , Lysine , Metabolism , Muscles , Pallidotomy , TryptophanABSTRACT
<p><b>PURPOSE</b>The purpose of this study is to review the urine products of bone breakdown as markers of bone resorption and usefulness of urinary hydroxyproline.</p><p><b>DATA</b>Related researches published in 1985 - 2000 were systematically reviewed.</p><p><b>RESULTS</b>Bone markers could be used for early diagnosis of bone metabolic diseases. Biochemical markers of bone resorption that reflect osteoclast activity and/or collagen degradation provide a new and potentially important clinical tool for the assessment and monitoring of bone metabolism. Assessment of bone resorption can be achieved with measurement of urinary hydroxylysine glycosides, urinary excretion of the collagen pyridinium cross-links, urinary excretion of type I collagen telopeptide breakdown products (cross-linked telopeptides) and urinary hydroxyproline.</p><p><b>CONCLUSION</b>Urinary hydroxyproline has been in use as a marker of bone resorption, but it lacks sensitivity and specificity. It is a modified amino acid that is a metabolic product of collagen breakdown. Hydroxyproline may be released either free or with fragments of the collagen molecule attached during bone resorption, and it is also liberated by the breakdown of complement and nonskeletal collagen.</p>
Subject(s)
Humans , Biomarkers , Urine , Bone Diseases, Metabolic , Urine , Bone Resorption , Urine , Collagen , Metabolism , Hydroxylysine , Urine , Hydroxyproline , Urine , Pyridinium Compounds , UrineABSTRACT
In order to investigate the impact of fulvic acid (FA) on the hydroxylysyl glycosylation in collagen bio-synthesis, 40 NMRI mice were divided into two groups (n = 20 in each group, consisting 10 females and 10 males). The animal was maintained for two generations by different diets: control group with normal water and food and study group with water containing 30 mg/L FA and normal food. The second generation of the animal was slaughtered, and the biochemical parameters of collagen content and the degree of collagen hydroxylysyl glycosylation in skin, rib and tibia were detected by biochemical methods. The mean value of collagen in the study group was increased slightly, and no significant difference between study group and control group was found (P > 0.05), but the content of glucose-glactose-hydroxylysine (GGH) was significantly decreased in the study group in comparison with the control group (P<0.01). It was suggested that through the decrease of GGH 30 mg/L FA could inhibit the activity of galactosyl-hydroxylysylglucosyl-transferase and further disturb the post-translational modification of collagen intracellularly.
Subject(s)
Benzopyrans/pharmacology , Bone Development , Bone and Bones/chemistry , Bone and Bones/metabolism , Collagen/biosynthesis , Glycosylation , Hydroxylysine/metabolism , Mice, Inbred Strains , Osteoarthritis/etiology , Selenium/deficiencyABSTRACT
In order to investigate the impact of fulvic acid (FA) on the hydroxylysyl glycosylation in collagen bio-synthesis, 40 NMRI mice were divided into two groups (n = 20 in each group, consisting 10 females and 10 males). The animal was maintained for two generations by different diets: control group with normal water and food and study group with water containing 30 mg/L FA and normal food. The second generation of the animal was slaughtered, and the biochemical parameters of collagen content and the degree of collagen hydroxylysyl glycosylation in skin, rib and tibia were detected by biochemical methods. The mean value of collagen in the study group was increased slightly, and no significant difference between study group and control group was found (P > 0.05), but the content of glucose-glactose-hydroxylysine (GGH) was significantly decreased in the study group in comparison with the control group (P<0.01). It was suggested that through the decrease of GGH 30 mg/L FA could inhibit the activity of galactosyl-hydroxylysylglucosyl-transferase and further disturb the post-translational modification of collagen intracellularly.
Subject(s)
Animals , Female , Male , Mice , Benzopyrans , Pharmacology , Bone Development , Bone and Bones , Chemistry , Metabolism , Collagen , Glycosylation , Hydroxylysine , Metabolism , Mice, Inbred Strains , Osteoarthritis , SeleniumABSTRACT
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Subject(s)
Humans , Infant , Male , Atrophy , Brain , Carnitine , Caudate Nucleus , Diagnosis, Differential , Fibroblasts , Gastroenteritis , Glutaryl-CoA Dehydrogenase , Hydroxylysine , Immunization , Lysine , Megalencephaly , Magnetic Resonance Imaging , Metabolism , Milk , Muscle Hypotonia , Neurologic Manifestations , Parturition , Putamen , Riboflavin , Tandem Mass Spectrometry , TryptophanABSTRACT
Introducción. no existe forma de indicar con precisión cuál es el momento más adecuado para iniciar la terapia hormonal de reemplazo (THR). Objetivo. evaluar diversos índices obtenidos por medio de las concentraciones séricas de hormona estimulante del folículo (FSH), estradiol (E2), estrona (E) e inhibina en suero y urinarias de decisión para el inicio de la THR en el climaterio. Material y métodos. A 53 pacientes se les evaluó la presencia e intensidad de los síntomas climatéricos por medio del índice de Kupperman modificado. Se dividieron en: premenopáusicas, perimenopáusicas o posmenopáusicas. Se les realizaron determinaciones sanguíneas de FSH, E2, E e inhibina, y DPD en orina. Se calcularon diversos índices, se compararon entre los grupos y se correlacionaron con la puntuación obtenida en el índice de Kupperman. Análisis estadístico. Se realizaron pruebas de Kruskall-Wallis y U de Mann-Whitney, así como análisis de correlación de Spearman. Resultados. Al comparar los diversos índices, el índice Log FSH/E2, Log FSH/E2/E, Log FSH(DPD)/E2, Log FSH (DPD)/E2/E y Log FSH(DPD)/Inhi-bina(E2) fueron significativamente mayores en el grupo de posmenopáusicas. Sólo hubo correlación significativa entre el índice Log FSH/Inhibina(E2) y el índice Log FSH (DPD)/Inhibina(E2) con el índice de Kupperman. Conclusiones. De los índices calculados el que parece ser el mejor marcador es la relación Log FSH(DPD)/E2/E, ya que tuvo un incremento progresivo conforme las pacientes avanzaban hacia la posmenopausia. El índice antes mencionado deberá validarse con un número mayor de pacientes, para poder definir un punto de corte a partir de que se pueda indicar a cuáles pacientes se debe administrar la THR.