- Metabolite
- HMDB0000521 (5Z-Tetradecenoic acid)
- Term
- Multiple acyl-coa dehydrogenase deficiency
- Definition
- An inherited metabolic disorder characterized by the bodys inability to break down proteins and fats to produce energy. it is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. it has material basis in mutations in the etfa, etfb and etfdh genes. it presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type i), a neonatal-onset form without congenital anomalies (type ii), and a late-onset form (type iii). the neonatal-onset forms are usually fatal. (do).
- Parent Term
- Health condition
- Parent Definition
- A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
- Synonyms
MaddOther Metabolites Mapped to 'Multiple acyl-coa dehydrogenase deficiency'HMDB0000521 (5Z-Tetradecenoic acid) References