Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quant
An asymptomatic variant of maple syrup urine disease without organic aciduria
β Scribed by M. L. Cabello; A. M. Garcia; J. Dalmau; C. Dominguez; C. Conde
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 130 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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Clinical course and laboratory findings including enzymatic studies in leukocytes and cultured fibroblasts are reported in an infant with a variant form of maple-syrup urine disease. Presenting symptoms in the age of 7 months were coma, ataxia and gross developmental retardation. Therapy consisted
Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r