Maple syrup urine disease in Brazil: a panorama of the last two decades
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چکیده
منابع مشابه
Maple syrup urine disease in Brazil: a panorama of the last two decades.
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-th...
متن کاملMaple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence amongst children from consanguineous relationships [1]. It is caused by an enzymatic deficiency with reduction in oxidative decarboxylation of branched-chain amino acids (BCAA) (leucine, isoleucine and valine) resulting in elevated levels and t...
متن کاملMaple Syrup Urine Disease
Alternative Names MSUD Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency BCKD Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine-Responsive Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis Maple Syrup Uri...
متن کامل[Maple syrup urine disease].
Branched chain a-ketoacid dehydrogenase (BCKDH) deficiency results in maple syrup urine disease (MSUD). We examined the molecular basis of familial cases ofMSUD by analyzing the activity, subunit structure, mRNA sequence, and genome structure of the affected enzyme. The BCKDH activity in the proband with MSUD was 6% ofthe normal control level. Immunoblot analysis revealed that the ElB subunit o...
متن کاملMaple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence amongst children from consanguineous relationships [1]. It is caused by an enzymatic deficiency with reduction in oxidative decarboxylation of branched-chain amino acids (BCAA) (leucine, isoleucine and valine) resulting in elevated levels and t...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 2015
ISSN: 0021-7557
DOI: 10.1016/j.jped.2014.08.010