BabyScreen+ newborn screening

Gene: SLC25A15

Green List (high evidence)

Mitochondrial ornithine transporter deficiency (synonym: hyperornithinemia-hyperammonemia-homocitrullinuria syndrome) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. This causes a functional deficiency in ornithine transcarbamoylase and ornithine aminotransferase. Onset may be neonatal, infantile or juvenile (until adolescence). Symptoms vary from seizures, vomiting with protein intolerance, and developmental delay to the most severe form with coma due to hyperammonemia.

Treatment with protein restricted diet supplemented with citrulline or arginine; sodium phenyl butyrate +/- dialysis during acute hyperammonaemic episodes; liver transplant can be of benefit

Created: 23 Dec 2022, 4:33 a.m. | Last Modified: 23 Dec 2022, 4:33 a.m.

Panel Version: 0.1632

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dev delay; encephalopathy; seizures; ataxia

Publications

• PMID: 22649802

Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: protein-restricted diet, citrulline, and sodium phenylbutyrate

Non-genetic confirmatory test: plasma ornithine, urinary homocitrulline

Created: 30 Nov 2022, 5:31 a.m. | Last Modified: 30 Nov 2022, 5:31 a.m.

Panel Version: 0.1150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970

Publications

• 22649802