ACETYL-CoA CARBOXYLASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: ACC1 DEFICIENCY
ACACAD
ACACA DEFICIENCY
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613933
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0001324) Muscle weakness 859 / 7739
3
 (HPO:0001252) Muscular hypotonia 990 / 7739
4
 (HPO:0003198) Myopathy 151 / 7739
5
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
6
 (HPO:0010547) Muscle flaccidity 466 / 7739
7
 (OMIM) Urinary excretion of 2-ethyl-hexanedioic acid 1 / 7739
8
 (OMIM) Urinary excretion of 2-ethyl-3-keto-hexanoic acid 1 / 7739
9
 (OMIM) Severe brain damage 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid 1 / 7739
12
 (OMIM) Decreased acetyl-CoA carboxylase activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Blom et al. (1981) reported a newborn girl with hypotonic myopathy, severe brain damage, and poor growth. On a carbohydrate-rich diet, she had urinary excretion of hexanoic acid, including 2-ethyl-3-keto-hexanoic acid, 2-ethyl-3-hydroxy-hexanoic acid, and 2-ethyl-hexanedioic acid. Liver biopsy ...