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Maple syrup urine disease in Indian baby: branched chain amino and ketoaciduria. 1966

D K Dastur, and D K Manghani, and M K Joshi, and S V Adavi

UI MeSH Term Description Entries
D007194 India A country in southern Asia, bordering the Arabian Sea and the Bay of Bengal, between Burma and Pakistan. The capitol is New Delhi. Republic of India
D007223 Infant A child between 1 and 23 months of age. Infants
D008375 Maple Syrup Urine Disease An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) Branched-Chain Ketoaciduria,Thiamine Responsive Maple Syrup Urine Disease,BCKD Deficiency,Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency,Classic Maple Syrup Urine Disease,Classical Maple Syrup Urine Disease,Intermediate Maple Syrup Urine Disease,Intermittent Maple Syrup Urine Disease,Keto Acid Decarboxylase Deficiency,MSUD (Maple Syrup Urine Disease),Maple Syrup Urine Disease, Classic,Maple Syrup Urine Disease, Classical,Maple Syrup Urine Disease, Intermediate,Maple Syrup Urine Disease, Intermittent,Maple Syrup Urine Disease, Thiamine Responsive,Maple Syrup Urine Disease, Thiamine-Responsive,Branched Chain Ketoaciduria,Branched Chain alpha Keto Acid Dehydrogenase Deficiency,Branched-Chain Ketoacidurias,Ketoaciduria, Branched-Chain,Ketoacidurias, Branched-Chain
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014556 Urine Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the URETHRA.

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