BabyScreen+ newborn screening

Gene: SPR

Green List (high evidence)

Age of onset < 5 yr

Sepiapterin reductase deficiency is a disorder of tetrahydrobiopterin metabolism. Tetrahydrobipterin plays a role as a cofactor in phenylalanine, L-dopa and serotonin metabolism. Few patients have been described. They had various degrees of developmental delay / intellectual disability and developed L-Dopa responsie dystonia with diurnal variation (Segawa syndrome). Sepiapterin reducatse deficiency does not go along with elevated blood phenylalanine levels and thus is not detected via newborn screening for hyeperphenyalaninemias.

treatment with L-Dopa + carbidopa, 5-Hydroxytryptophan improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s); improves neurological manifestations (incl. neuro-imaging); improves seizure/epilepsy control; improves systemic manifestations. Folinic acid also helps with cognitive development.

Created: 23 Dec 2022, 5:01 a.m. | Last Modified: 23 Dec 2022, 5:01 a.m.

Panel Version: 0.1632

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ID; dystonia

Publications

• PMID: 28189489
• PMID: 32456656

Green List (high evidence)

Established gene-disease association.

Childhood onset, neurological disorder

Treatment: Levodopa combined with a decarboxylase inhibitor, 5-hydroxytryptophan

Non-genetic confirmatory test: CSF neurotransmitter metabolites and pterins

Created: 14 Dec 2022, 5:14 a.m. | Last Modified: 14 Dec 2022, 5:14 a.m.

Panel Version: 0.1419

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716