2-Methylbutyryl-CoA Dehydrogenase Deficiency

Alternative Names

2-Methylbutyryl Glycinuria; Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency
SBCADD

Associated Genes

Acyl-CoA Dehydrogenase, Short/Branched Chain

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

610006

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q26.13

Description

2-Methylbutyryl-CoA dehydrogenase deficiency disorder, also known as short/branched-chain acyl-coA dehydrogenase deficiency, is an inborn error of L-isoleucine catabolism. It is characterized by increased urinary excretion of 2-methylbutyrylglycine (2-MBG), and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis.

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
610006.1.1	Eritrea	Male	Yes	No	Neonatal hypoglycemia; Hypoxemia; Glob... Neonatal hypoglycemia; Hypoxemia; Global developmental delay; Seizure;	NM_001609.3:c.303+3A>G, NM_001609.3:c.763C>T	Heterozygous	Autosomal, Recessive	Gibson et al. 2000; Madsen et al. 2006	Compound heterozygou...
610006.1.2	Eritrea	Female	Yes	No		NM_001609.3:c.303+3A>G, NM_001609.3:c.763C>T	Heterozygous	Autosomal, Recessive	Gibson et al. 2000; Madsen et al. 2006	Sister of 610006.1.1...
610006.2.1	Somalia	Male			Global developmental delay; Hypotonia; ... Global developmental delay; Hypotonia; Seizure;	NM_001609.3:c.303+3A>G	Homozygous	Autosomal, Recessive	Madsen et al. 2006
610006.2.2	Somalia	Female				NM_001609.3:c.303+3A>G	Heterozygous		Madsen et al. 2006	Mother of 610006.2.1
610006.3.1	Lebanon	Male	Yes	Yes		NM_001609.3:c.443C>T, NM_001609.3:c.1159G>A	Heterozygous	Autosomal, Recessive	Sass et al, 2008	Increased C5 acylcar...
610006.3.2	Lebanon	Male	Yes	Yes		NM_001609.3:c.443C>T, NM_001609.3:c.1159G>A	Heterozygous	Autosomal, Recessive	Sass et al, 2008	Brother of 610006.3....