Multiple carboxylase deficiency (MCD, holocarboxylase synthetase)

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	(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
	(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
	(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
	(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
	(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
	5-oxoprolinemia
	(D2-HGA) D-2 Hydroxyglutaric Aciduria
	(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
	(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
	(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
	(L2HGA) L-2-Hydroxy- glutaricaciduria
	(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
	(MMA) Methlymalonic Acidemia
	(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
	(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
	(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
	(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

Multiple carboxylase deficiency (MCD, holocarboxylase synthetase)

A deficiency of biotin, part of the Vitamin B complex, leading to multiple carboxylase deficiency. Incidence is 1 in 87,000. Symptoms include seizures, hypotonia, immune system impairment, skin rashes, hair loss, hearing loss and mental retardation. Treatment is oral biotin supplementation, which should be begun immediately upon diagnosis.

Parent Fact Sheet on MCD by STAR-G/HRSA