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
Intellectual performance of children with maple syrup urine disease
โ Scribed by C. Hilliges; D. Awiszus; U. Wendel
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 412 KB
- Volume
- 152
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Antenatal diagnosis of MSUD was carried out in a family with 2 known MSUD cases. By means of a relatively simple method we were able to show that the enzyme activity of the cultivated amnion cells (female karyotype) was not lower than the activities of the control cells. The birth of a healthy girl
Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular
## Abstract Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branchedโchain ฮฑโketo acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branchedโchain amino acids leucine, isoleucine
Two neonates with maple syrup urine disease were treated by exchange transfusion. Within 15 h blood leucine and K/CA concentrations were lowered from 2.6raM to 1.1raM using 570 to 620ml blood per kg body weight. The other branched-chain amino acid/keto acid pairs fell to normal. During exchange tran