ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD

Question 1

What is  ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD?

Accepted Answer

very rare

autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

ACETYL-CoA CARBOXYLASE MANGEL

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613933

Question 4

Which enzymes are involved?

Accepted Answer

Acetyl-CoA carboxylase 1

Disease	ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD
Synonym	ACACA DEFICIENCY
OMIM	613933 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Acetyl-CoA carboxylase 1
ExPASy	6.4.1.2
Gene locus	17q12
ICD	---
Summary	very rare autosomal recessive
Laboratory findings	2-Ethyl-3-hydroxy-hexanoic acid inc (urine) 2-Ethyl-3-keto-hexanoic acid inc (urine) 2-Ethyl-hexanedioic acid inc (urine)
Symptoms	growth retardation, poor growth hypotonia myopathy onset, neonatal