Variant maple syrup urine disease (MSUD)—The entire spectrum
✍ Scribed by E. Simon; N. Flaschker; P. Schadewaldt; U. Langenbeck; U. Wendel
- Book ID
- 106374070
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 248 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0141-8955
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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
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