Multiple acyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM:231680) is caused by mutations in either:
- ETFDH gene at 4q32.1 - Glutaric acidemia IIC
- ETFA gene at 15q24.2-q24.3 - Glutaric acidemia IIA
- ETFB gene at 19q13.41 - Glutaric acidemia IIB
The phenotype can vary from severe early onset nonketotic hypoglycaemia, with metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites to late onset intermittent organic aciduria only evident during periods of illness or catabolic stress. Recurrent episodes of lethargy, vomiting, hypoglycaemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress are suggestive. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs.
Riboflavin treatment works in milder cases.