MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: MCKAT DEFICIENCY
Number of Symptoms 9
OrphanetNr:
OMIM Id: 602199
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:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0001410) Decreased liver function 59 / 7739
3
 (HPO:0002013) Vomiting 191 / 7739
4
 (HPO:0001944) Dehydration 59 / 7739
5
 (HPO:0001942) Metabolic acidosis 81 / 7739
6
 (HPO:0003201) Rhabdomyolysis 27 / 7739
7
 (OMIM) Mitochondrial medium chain 3-ketoacyl-coenzyme A thiolase deficiency 1 / 7739
8
 (HPO:0003811) Neonatal death 44 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: