Rhabdomyolysis and Metabolic Myopathy

Gene: SLC25A20

Green List (high evidence)

Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. 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. Well established gene-disease association.

Created: 30 Dec 2020, 9:49 p.m. | Last Modified: 30 Dec 2020, 9:49 p.m.

Panel Version: 0.5879

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine-acylcarnitine translocase deficiency, MIM# 212138

Publications

• 15363639
• 15365988
• 24088670

Green List (high evidence)

>4 families reported with biallelic variants in this gene. CACT deficiency is characterized by heart problems, muscle weakness, seizures, abnormal liver function, and severe episodes of hypoglycemia and hyperammonemia.

PMID: 32337051: Reported 3 patients from 2 families wtih CACT deficiency.

PMID: 25614308: 4 cases and literature review. Hypotonia appears to be an inconsistent feature.

Created: 15 Jun 2020, 5:57 a.m. | Last Modified: 15 Jun 2020, 5:57 a.m.

Panel Version: 0.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine-acylcarnitine translocase deficiency (MIM#212138)

Publications

• 32337051
• 25614308
• 25459972