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1.
Arch. argent. pediatr ; 118(2): e178-e182, abr. 2020. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1100431

ABSTRACT

La enfermedad de jarabe de arce es una entidad autosómica recesiva producida por un error congénito en el metabolismo de tres aminoácidos esenciales de cadena ramificada: valina, leucina e isoleucina. La forma neonatal de esta enfermedad se manifiesta por un cuadro de compromiso neurológico grave y progresivo, asociado a un olor peculiar de la orina, consecuencia de la eliminación del exceso de estos aminoácidos. Este olor a azúcar quemada remeda a la melaza obtenida de los arces, lo que da nombre a esta enfermedad. El mejor método para eliminar estos tóxicos es la hemodiafiltración, pero, en los centros en los que esta práctica no es posible, la diálisis peritoneal constituye una alternativa.Se presenta a un recién nacido con leucinosis, con compromiso grave del sistema nervioso central, en quien la diálisis peritoneal fue de utilidad para superar la descompensación metabólica.


Maple syrup disease is an autosomal recessive entity caused by a congenital error in the metabolism of three essential branched-chain amino acids: valine, leucine and isoleucine. The neonatal form of this disease is expressed by a severe and progressive neurological compromise, associated with a peculiar smell of urine, a consequence of the elimination of the excess of these amino acids. This smell of burnt sugar mimics the molasses obtained from maples, which gives its name to this disease. The best method to eliminate these toxins is hemodiafiltration, but in centers where this practice is not possible, peritoneal dialysis is an alternative.We present a newborn with leukinosis with severe central nervous system involvement in whom peritoneal dialysis was useful to overcome metabolic decompensation.


Subject(s)
Humans , Male , Infant, Newborn , Peritoneal Dialysis , Maple Syrup Urine Disease/diagnosis , Urine/chemistry , Weight Loss , Maple Syrup Urine Disease/therapy
2.
Rev. méd. hondur ; 85(1-2): 35-39, ene.-jun. 2017. ilus
Article in Spanish | LILACS | ID: biblio-884109

ABSTRACT

Antecedentes: La Enfermedad de la Orina con olor a Jarabe de Arce es un error innato del metabolismo causada por deficiencia de actividad de la deshidrogenasa de los cetoácidos, que lleva acumular aminoácidos de cadena ramificada que produce una encefalopatía neonatal y al no ser tratada tempranamente, deja secuelas neurológicas permanentes hasta la muerte. Caso Clínico: Recién nacida producto de parto eutocico, a término, respiración espontanea, llanto vigoroso y buen tono muscular, alimentación exclusiva con lactancia materna. Antecedentes maternos de 2 hijos muertos en período neonatal. Paciente se presenta a los 7 días con pobre succión, vómitos, hipoactividad y fiebre. Examen físico: hipoactivo, reflejo de moro incompleto, llanto débil y constante. Posteriormente movimientos en extremidades superiores que simulan "boxeo" e hipertonicos, y pedaleo en extremidades inferiores, fontanela tensa y abombada, respiración irregular y bradipnea, se realiza intubación endotraqueal, ventilación mecánica y manejo en UCIN, EEG actividad eléctrica convulsiva, TAC cerebral normal. Se investiga enfermedad metabólica y se solicita tamizaje neonatal . Se inicia tiamina/levocarnitina ante sospecha de un error innato del metabolismo. A los 23 días de vida los resultados revelan niveles elevados de los aminoácidos específicos de la MSUD. Discusión: MSUD es una entidad rara en el mundo, que cursa con secuelas neurológicas permanentes y muerte de no ser tratada. Honduras no realiza métodos de Tamizaje Neonatal, es importante que el médico sospeche de manera temprana estas enfermedades, realizar un diagnóstico oportuno, se conduzca un tratamiento multidisciplinario y exista una mayor accesibilidad a las fórmulas especializadas..(AU)


Subject(s)
Humans , Female , Infant, Newborn , Brain Diseases , Glycine Dehydrogenase , Maple Syrup Urine Disease/diagnosis , Nurses, Neonatal
3.
Acta pediátr. hondu ; 6(1): 423-429, abr.-sep. 2015. ilus, tab.
Article in Spanish | LILACS | ID: biblio-884455

ABSTRACT

Antecedentes: La enfermedad de orina olor a jarabe de arce (EOJA) es un error congénito del metabolismo de herencia autosómica recesiva, causado por la actividad defectuosa del com- plejo enzimático deshidrogenasa de α -cetoáci- dos, ocasionando que los aminoácidos de cadena ramificada; valina, leucina e isoleucina no puedan catabolizarse completamente. Se trata de lactante menor, tres meses de edad, con antecedente de vómitos frecuentes y rechazo a la alimentación desde la primera semana de vida, tratado por alergia a la proteí- na de la leche de vaca y reflujo gastroesofágico grado IV, con varios cambios de formula en su alimentación. Trasladado al Instituto Hondure- ño del Seguro Social, Hospital Regional del Norte (IHSS-HRN) con historia de cinco días de tos, fiebre y aproximadamente nueve horas de dificultad respiratoria. Tres horas más tarde presenta convulsiones tónicas y choque, por lo que se trasladado a sala de cuidados intensivos pediátricos, acoplándose a ventilador mecáni- co. Laboratorialmente: acidosis metabólica persistente que se logró controlar a las 48 horas, Anión Gap: 17, cetonuria, IRM con impor- tante atrofia cortical. Se encontró elevación de los metabolitos de aminoácidos de cadena ramificada; 2-OH isovalerico, 2- OH isocaproico, 2-ceto-3 methylvalerico, 2 cetoisocaproico consistentes con EOJA y elevación del ácido láctico y alfa cetoglutarato; que podrían indicar defectos en la subunidad E3 de la enzima deshidrogenasa. Conclusiones: Los errores innatos del metabolismo son más frecuente- mente diagnosticados cada día, y deben sospe- charse en los niños con vómitos frecuentes...(AU)


Subject(s)
Humans , Male , Infant , Anemia, Neonatal/complications , Congenital Abnormalities , Maple Syrup Urine Disease/diagnosis , Metabolism, Inborn Errors/complications
4.
J. pediatr. (Rio J.) ; 91(3): 292-298, May-Jun/2015. tab, graf
Article in English | LILACS | ID: lil-752410

ABSTRACT

OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country. .


OBJETIVO: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. MÉTODOS: Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. RESULTADOS: Foram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. CONCLUSÃO: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país. .


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Delayed Diagnosis/statistics & numerical data , Maple Syrup Urine Disease/epidemiology , Neonatal Screening , Brazil/epidemiology , Developmental Disabilities/etiology , Early Diagnosis , Longitudinal Studies , Leucine/blood , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/genetics , Retrospective Studies
5.
Article in English | IMSEAR | ID: sea-39999

ABSTRACT

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched-chain amino acids (leucine, isoleucine and valine). Classic MSUD usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular hypertonicity, seizure, coma and death. Thirteen cases of classic MSUD were diagnosed from 1997-2007 at the Queen Sirikit National Institute of Child Health. All cases presented in the neonatal period. The onset of symptoms ranged from 3 to 20 days (median 8 days). The time taken to make the diagnosis ranged from 18 to 356 days (median 55 days). The diagnosis was accomplished by clinical diagnosis and confirmed by detecting abnormal levels of amino acids in the blood and organic acids in the urine. Clinical manifestations were non-specific such as poor suck, weak cry, drowsiness and seizures. Majority of cases were initially diagnosed as sepsis and/or meningitis. All patients had neurological sequelae and psychomotor retardation. This results show the need for increase awareness of metabolic disorder such as MSUD and the requirement for early detection and treatment to ensure a better outcome.


Subject(s)
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) , Amino Acids, Branched-Chain , Antioxidants , Female , Humans , Infant , Infant, Newborn , Male , Maple Syrup Urine Disease/diagnosis , Oxidative Stress , Risk Factors , Thailand/epidemiology
6.
Rev. Hosp. Matern. Infant. Ramon Sarda ; 27(2): 89-94, 2008. tab, graf
Article in Spanish | LILACS | ID: lil-520080

ABSTRACT

Las enfermedades metabólicas pueden presentarse con síntomas, signos y laboratorios inespecíficos, que si no se consideran entre los diagnósticos diferenciales pueden retrasar el diagnóstico de estos pacientes, lo que lleva a un alto grado de secuelas neurológicas o muerte en etapas tempranas. La enfermedad de Orina a Jarabe de Arce es una enfermedad metabólica de baja incidencia caracterizada por la acumulación de niveles tóxicos de valina, isoleucina y principalmente leucina. Se presenta un paciente sin antecedentes que a los 11 días de vida comienza con mala actitud alimentaria, letargia y fontanela tensa. Descartadas las causas infectológicas se realizó un screening para enfermedades metabólicas. Se diagnosticó Leucinosis (Enfermedad de orina con olor a Jarabe de Arce) y se inició el tratamiento con restricción de leucina, valina e isoleucina en la dieta. A los pocos días del tratamiento el paciente mostró evidencias de mejoría clínica y en los parámetros de laboratorio.


Clinical signs, symptoms and lab tests of neonatal metabolic diseases may be unspecific and a high grade of suspicion is necessary to include them among the differential diagnosis avoiding a significant delay in recognizing this condition and consequent risk of neurologic handicap or early dead. Maple syrup urine disease is a congenital metabolic disorder with a low rate of prevalence and characterized by a toxic accumulation of the amino acids valine, isoleucine and mainly leucine. In this report we describe the history of a patient apparently healthy that on the 11th day after birth initiates symptoms like poor feeding, lethargy and tense fontanel. Excluded sepsis a work up for metabolic disease was performed, being diagnosed a leucinosis (Maple syrup urine disease). A dietary treatment with leucine, valine and isoleucine restriction was immediately initiated and a few days after the patient showed significant clinical and lab improvement. A short description and discussion of this disease is presented.


Subject(s)
Humans , Male , Infant, Newborn , Amino Acids, Branched-Chain/metabolism , Amino Acids, Branched-Chain/blood , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/diet therapy , Argentina , Early Diagnosis , Metabolic Diseases/diagnosis , Isoleucine/metabolism , Isoleucine/blood , Leucine/metabolism , Leucine/blood , Neonatal Screening , Dietary Proteins/administration & dosage , Valine/metabolism , Valine/blood
7.
Indian J Pediatr ; 2005 Apr; 72(4): 325-32
Article in English | IMSEAR | ID: sea-79970

ABSTRACT

The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.


Subject(s)
Brain Diseases, Metabolic/diagnosis , Child , Diagnosis, Differential , Emergencies , Hepatolenticular Degeneration/diagnosis , Heredodegenerative Disorders, Nervous System/diagnosis , Humans , India , Infant , Infant, Newborn , Maple Syrup Urine Disease/diagnosis , Menkes Kinky Hair Syndrome/diagnosis , Metabolism, Inborn Errors/diagnosis , Phenylketonurias/diagnosis
9.
IJMS-Iranian Journal of Medical Sciences. 2002; 27 (3): 134-5
in English | IMEMR | ID: emr-59484

ABSTRACT

Inborn errors of amino-acids metabolism and other inherited Mendelian disorders are common in the Middle East. The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria [PKU], tyrosinemia, and maple syrup urine disease [MSUD] in Fars Province, South of Iran. Using a high performance liquid chromatography, 1044 patients with signs and symptoms suggestive of PKU, tyrosinemia and MSUD were investigated between 1996 and 2001, for the presence of the disorders. Of 1044 patients, 43 cases [4.1%] with PKU, 15 [1.4%] with tyrosinemia and 6 [0.6%] with MSUD were diagnosed. The incidence rates of PKU, tyrosinemia and MSUD were found to be 27.2, 9.4, and 4.7 per 100,000 births, respectively. The incidence rates of PKU, tyrosinemia and MSUD in our region is higher than the rates reported from Europe presumably because of the relatively higher rates of consanguinity


Subject(s)
Humans , Maple Syrup Urine Disease/diagnosis , Phenylketonurias/diagnosis , Tyrosinemias/diagnosis , Amino Acid Metabolism, Inborn Errors/diagnosis
10.
KMJ-Kuwait Medical Journal. 2002; 34 (3): 224-226
in English | IMEMR | ID: emr-59956

ABSTRACT

Maple syrup urine disease is a rare, autosomal, recessive, manifestations. We report two affected Arab children organic aciduria previously described with different with skin manifestation


Subject(s)
Humans , Male , Female , Maple Syrup Urine Disease/diagnosis , Skin/pathology , Diet Therapy , Tomography, X-Ray Computed , Infant, Newborn, Diseases
11.
Southeast Asian J Trop Med Public Health ; 1999 ; 30 Suppl 2(): 154-9
Article in English | IMSEAR | ID: sea-32356

ABSTRACT

From a retrospective study in Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University in Bangkok (1983-1988), the estimated pediatric patients with clinically suspected IEM are approximately 2-4% of total annual pediatrics admission of 5,000 or more. This is, a low estimation since survey from all teaching hospitals in the country including the largest Children's Hospital in Bangkok indicated the presence of numerous IEM. However, most IEM were clinically diagnosed with limited laboratory facilities. We started a collaboration with Magee Womens Hospital of Pittsburgh and NeoGen Screening, USA; using tandem mass spectrometry to diagnose high risk infants and children for IEM from July 1993 to March 1998. Of total 146 samples sent, we detected numerous metabolic disorders (11.2%) eg phenylketonuria, organic acidemia, maple syrup urine disease, isovaleric acidemia, methylmalonic acidemia, albinism, translocase/carnitine palmitoyltransferase type II, G6PD deficiency and lysinuric protein intolerance.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acids/blood , Blood Chemical Analysis/methods , Carnitine Acyltransferases/deficiency , Child , Fatty Acids/metabolism , Humans , Infant , Infant, Newborn , Male , Maple Syrup Urine Disease/diagnosis , Metabolism, Inborn Errors/diagnosis , Pentanoic Acids/blood , Phenylketonurias/diagnosis , Retrospective Studies , Spectrometry, Mass, Electrospray Ionization , Thailand
13.
Article in English | LILACS | ID: lil-245926

ABSTRACT

A new method for the determination of branched-chain alpha-ketoacid concentration using lactate dehydrogenase (E C 1.1.1.27) isozyme C4 (LDH) C4) from mouse testes is proposed. The assay is performed on urine and plasma without previous treatment. Alpha-ketoglutarate and pyruvate are determined on the same sample using glutamate dehydrogenase (GDH,EC 1.4.1.2) and lactate dehydrogenase isozyme A4 (LDH5) respectively and subtracted from the total alpha-ketoacid concentration obtained with LDH C4. This value corresponds to the branched chain alpha-ketoacid. Results were linear within the concentration range 8 to 170 mumoles/L. Detection limit was 8 mumoles/L. Analytical recovery was higher than 91 per cent. For microplate assays, recoveries were higher than 84 per cent and the detection limit was 20 mumoles/L. Determinations performed with GDH, LDH A4 and LDH C4 allow differentiation of E3 deficiency from other clinical phenotypes of maple syrup urine disease. The method is simple and fast, and adaptation to microplates would allow screening of newborns.


Subject(s)
Adult , Humans , Female , Child , Child, Preschool , Adolescent , Animals , Rats , Clinical Enzyme Tests , L-Lactate Dehydrogenase/blood , L-Lactate Dehydrogenase/urine , Maple Syrup Urine Disease/diagnosis , Multienzyme Complexes/blood , Multienzyme Complexes/urine , Chromatography, Gas , Glutamate Dehydrogenase/analysis , Maple Syrup Urine Disease/genetics , Sugar Alcohol Dehydrogenases/analysis , Testis/enzymology
14.
Southeast Asian J Trop Med Public Health ; 1995 ; 26 Suppl 1(): 134-6
Article in English | IMSEAR | ID: sea-31498

ABSTRACT

The Malaysian level of health care has greatly improved so that many of the infectious diseases are now under control. However, perinatal death or death due to unknown childhood diseases remains high (10.3%) being second on the list of causes of death amongst Malaysians. Could inborn metabolic diseases be the main cause of death among these children? Recently, with our success in the development of confirmatory techniques for amino acid disorders using high performance liquid chromatography (HPLC), we have examined 404 samples received from all over the country in 1993. Each specimen with abnormal findings from screening tests by one-dimensional thin layer chromatography was confirmed using HPLC. 41% had generalized aminoacidurias and 4.2% had maple syrup urine disease (MSUD). Patients were aged between 11 days to 6 years. Most of them were Malay males and presented with a history suggestive of MSUD. With this preliminary finding, further studies will be carried out in order to have an investigation and management protocol for the diseases and more importantly to formulate a strategy of screening for the country.


Subject(s)
Amino Acids/blood , Child , Child, Preschool , Chromatography, High Pressure Liquid/methods , Chromatography, Thin Layer/methods , Female , Humans , Infant , Infant, Newborn , Malaysia/epidemiology , Male , Maple Syrup Urine Disease/diagnosis
15.
Bol. méd. Hosp. Infant. Méx ; 52(1): 39-43, ene. 1995. tab, ilus
Article in Spanish | LILACS | ID: lil-147837

ABSTRACT

Introducción. La enfermedad de orina con olor a jarabe de arce (EOJA), fue descrita por primera vez en 1954 por Menkes; se caracteriza por cuadro neurológico progresivo, orina con olor a caramelo y muerte inexplicable. La herencia es autosómica recesiva y la mayor incidencia se observa en población Menonita. El defecto metabólico consiste en deficiencia de descarboxilación oxidativa de los Ó-cetoácidos de cadena ramificada, derivados de los aminoácidos esenciales leucina, isoleucina y valina, que tiene como consecuencia incremento de Ó-cetoácidos en líquidos y células corporales. Casos clínicos. Reportamos tres pacientes con EOJA, de las variedades clásica e intermedia, quienes presentaron manifestaciones cutáneas llamativas en algún momento de su evolución. Conclusiones. La EOJA no produce manifestaciones cutáneas "per se", y se considera que estas son secundarias a déficit carenciales por el tratamiento


Subject(s)
Child , Humans , Male , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/physiopathology , Skin Manifestations
17.
Anon.
Arch. latinoam. nutr ; 43(3): 204-210, Sep. 1993.
Article in Spanish | LILACS | ID: lil-321683

ABSTRACT

Maple Syrup Urine Disease (MUSD) and Phenylketonuria (PKU), are two metabolic disease in which the nutritional management are essential. Nevertheless, in Costa Rica and the rest of Central America, the dietetical attention of the children with this illness aren't normalized. These work was developed to fill this necessity. The nutritional management was separate in three steps: 1-Initial diet: is the feeding that the children must receive while the blood amino acid level falls, 2-Stabilization diet: is the one where the requirement of limits amino acid are defined, 3-Follow up diet: this is the diet that is prescribed for the rest of his life. This attention methodology, was very important to an adequate physical and neurological development of the children with PKU and MSUD.


Subject(s)
Humans , Infant , Child , Child, Preschool , Maple Syrup Urine Disease/diet therapy , Phenylketonurias , Amino Acids/administration & dosage , Child Nutrition , Costa Rica , Diet Therapy , Maple Syrup Urine Disease/diagnosis , Infant Food , Infant, Newborn , Neonatal Screening , Nutritional Requirements , Phenylketonurias
18.
Indian J Pediatr ; 1990 Sep-Oct; 57(5): 717-21
Article in English | IMSEAR | ID: sea-84203

ABSTRACT

Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization. During a period of three years more than 14 cases of MSUD have been confirmed in our hospital suggesting an alarmingly high rate of incidence of this disease in the Kingdom as compared to the West. We present here a simple and reliable method of quantitating the branched chain and other amino acid concentrations in plasma samples of children with metabolic disorders. In addition, we also present a fluorimetric COBAS based enzymatic method for the rapid semiquantitative measurement of branched chain amino acids for a disease in which a prompt initial diagnosis is essential.


Subject(s)
Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Maple Syrup Urine Disease/diagnosis , Saudi Arabia
20.
Arq. neuropsiquiatr ; 43(4): 403-6, dez. 1985. tab
Article in Portuguese | LILACS | ID: lil-27332

ABSTRACT

Apresentaçäo de um caso de leucinose em recém-nascido do sexo feminino, diagnóstico no 26§ dia de vida. O quadro neurológico se caracteriza por alteraçöes do tono muscular, convulsöes, letargia e dificuldade respiratória. A demosntraçäo do aumento de aminoácidos de cadeia ramificada através do aminoacidograma constituiu o teste diagnóstico mais importante e o tratamento com MSUD resultou na boa evoluçäo da paciente


Subject(s)
Infant, Newborn , Humans , Female , Leucine/urine , Maple Syrup Urine Disease/diagnosis , Isoleucine/blood , Leucine/blood , Maple Syrup Urine Disease/diet therapy , Methionine/blood , Valine/blood
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