Interrelation between the Metabolism of L-Isoleucine and L-Allo-Isoleucine in Patients with Maple Syrup Urine Disease
نویسندگان
چکیده
منابع مشابه
Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry.
A novel method was developed for the diagnosis of maple syrup urine disease (MSUD) by the determination of L-valine, L-leucine, L-isoleucine and L-phenylalanine in dried blood spots of newborns by gas chromatography-mass spectrometry (GC-MS). The four amino acids were extracted from blood samples by methanol and derivatized by n-butanol and trifluroacetic anhydride under optimum reaction condit...
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: Pediatric Research
سال: 1989
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198901000-00003