BabyScreen+ newborn screening

Gene: SLC25A20

Green List (high evidence)

Established gene-disease association.

Childhood onset (generally neonatal, later onset described but still <5years), metabolic disorder

Treatment: high-carbohydrate, low-fat diet, medium chain triglycerides, frequent feeds, carnitine, avoid fasting, triheptanoin

Non-genetic confirmatory test: no

Created: 6 Dec 2022, 3:34 a.m. | Last Modified: 6 Dec 2022, 3:34 a.m.

Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine-acylcarnitine translocase deficiency, MIM# 212138

Green List (high evidence)

Well established gene-disease association.

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.

Treatment: high-carbohydrate, low-fat diet, medium chain triglycerides, frequent feeds, carnitine, avoid fasting, triheptanoin

Results of triheptanoin trial, PMID 32885845.

Created: 29 Sep 2022, 6:44 a.m. | Last Modified: 29 Sep 2022, 6:44 a.m.

Panel Version: 0.268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine-acylcarnitine translocase deficiency, MIM# 212138

Publications

• 33085788
• 32885845

Green List (high evidence)

this is currently part of the VCGS newborn screening panel

Created: 26 Sep 2022, 2:03 a.m. | Last Modified: 26 Sep 2022, 2:03 a.m.

Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal