BabyScreen+ newborn screening

Gene: GLDC

I don't know

Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.

However, the effectiveness of treatment is not established, PMID 35683414 for a recent review.

Created: 31 May 2023, 1:40 a.m. | Last Modified: 31 May 2023, 1:44 a.m.

Panel Version: 0.2156

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycine encephalopathy, MIM# 605899

Publications

• 35683414

I don't know

causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)

Created: 20 Nov 2022, 6:30 a.m. | Last Modified: 20 Nov 2022, 6:46 a.m.

Panel Version: 0.950

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
acute encephalopathy; seizures; intellectual disability

Publications

• PMID: 16404748
• PMID: 34513771