2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)

Question 1

What is  2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

2-Methylbutyryl-CoA-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610006

Question 4

Which enzymes are involved?

Accepted Answer

Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

Disease	2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)
Synonym	SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
OMIM	610006 OMIM = Online Mendelian Inheritance of Men
Orphanet	79157
Protein (UniProt)	Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
Gene locus	10q26.13
ICD	E71.1
Summary	very rare autosomal recessive
Laboratory findings	2-Ethylhydracrylic acid inc (urine) 2-Methylbutyrylcarnitine inc (urine) 2-Methylbutyrylcarnitine inc (blood) 2-Methylbutyrylglycine inc (urine) D-Glucose dec (serum) Isobutyrylglycine normal/inc (urine) Isovalerylcarnitine (C5) inc (blood)
Symptoms	apnea athetosis behavior, autism or autistic-like hypoglycemia hypothermia hypotonia mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] muscle atrophy neutropenia (decreased neutrophils) no clinical symptoms (probably) onset, infancy seizures strabismus