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Details of ACAT1 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid |
triglylglycine |
Phenotypes
Abdominal symptom, Abnormality of acid-base homeostasis, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the central nervous system, Abnormality of the nervous system, Acidosis, All, Autosomal recessive inheritance, Cognitive impairment, Dehydration, Episodic ketoacidosis, Intellectual disability, Ketoacidosis, Ketosis, Mode of inheritance, Nausea and vomiting, Phenotypic abnormality, Vomiting.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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