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Article

d-Glycerate kinase deficiency in a neuropediatric patient.

Brain & development - 1 Feb 2020

Sass Jörn Oliver, Behringer Sidney, Fernando Malkanthi, Cesaroni Elisabetta, Cursio Ida, Volpini Alberto, Till Claudia

Abstract excerpt

d-Glyceric aciduria (DGA) due to d-glycerate kinase deficiency (DGKD) is a rare autosomal-recessive inborn error of metabolism that is usually linked to the metabolism of fructose and serine. We describe a Moroccan patient with DGKD whose metabolic defect has been characterized by metabolite studies, sequencing of genomic DNA and by studies on the RNA level. Since birth the index patient presented with severe...

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Identifiers

PMID: 31837836
DOI: 10.1016/j.braindev.2019.11.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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