A young woman with multiple acyl-CoA dehydrogenase deficiency (MADD)

Mechanisms Underlying Metabolic and Neural Defects in Zebrafish and Human Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating neurological, systemic and metabolic symptoms. We show that a zebrafish mutant in ETFDH, xavier, and fibroblast cells from MADD patients demonstrat...

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Cardiomyopathy and leukodystrophy are life-threatening complications of multiple acyl-CoA dehydrogenase deficiency (MADD). A 2-year-old boy with this disorder developed rapidly progressive leukodystrophy resulting in complete paralysis within 4 months. Within a week of starting sodium-D,L-3-hydroxybutyrate he had improved. After 2 years, neurological function returned, including walking indepen...

[Very-long-chain acyl-CoA dehydrogenase deficiency].

Short-chain acyl-CoA dehydrogenase deficiency.

The c.625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing “clinical SCAD deficiency (SCADD)” and appears to be common in the general population. To determine the frequency of the c.625G>A variant in the Netherlands, we analyzed 1036 screening cards of 5to 8-dayold newborns and found 5.5% homozygous and 31.3% heterozygous for...

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].

common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...