Preferred Label : Carnitine-acylcarnitine translocase deficiency;
Symbol : CACTD;
CISMeF acronym : CACTD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cact deficiency;
Description : Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive long-chain
fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia
under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases,
dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile
with marked elevation of the long-chain acylcarnitines. Clinical features include
neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage,
and liver dysfunction. Most patients become symptomatic in the neonatal period with
a rapidly progressive deterioration and a high mortality rate. However, presentations
at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo
et al., 2004).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 25 (carnitine/acylcarnitine translocase),
member 20 gene (CACT, 613698.0001);
Laboratory abnormalities : Low free carnitine; Increased serum creatine kinase; Abnormal liver enzymes; Hyperammonemia; Increased long-chain acylcarnitines; Dicarboxylic aciduria;
Prefixed ID : #212138;
Origin ID : 212138;
UMLS CUI : C0342791;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
