Immunosuppressive effects of organic acids accumulating in patients with maple syrup urine disease
β Scribed by M. Wajner; J. L. Schlottfeldt; K. Ckless; C. M. D. Wannmacher
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 224 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branchedβchain Ξ±βketo acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branchedβchain amino acids leucine, isoleucine
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