Glycine dehydrogenase (decarboxylating) deficiency

MedGen UID:: 82819
•Concept ID:: C0268561
•: Disease or Syndrome

Synonyms:	Hyperglycinemia, Nonketotic, Type I; Nonketotic Hyperglycinemia, Type I; Type I Nonketotic Hyperglycinemia
SNOMED CT:	Glycine dehydrogenase (decarboxylating) deficiency (63329001); Nonketotic hyperglycinemia, type I (63329001); Glycine decarboxylase deficiency (63329001); P-protein deficiency (63329001); P protein deficiency (63329001); Glycine dehydrogenase decarboxylating deficiency (63329001); Non-ketotic hyperglycinemia P protein deficiency (63329001); Non-ketotic hyperglycinemia type I (63329001)

Recent clinical studies

Diagnosis

Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

Riché R, Liao M, Pena IA, Leung KY, Lepage N, Greene NDE, Sarafoglou K, Schimmenti LA, Drapeau P, Samarut É
JCI Insight 2018 Nov 2;3(21) doi: 10.1172/jci.insight.124642. PMID: 30385710 Free PMC Article

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Ezgu F, Çiftci B, Topçu B, Adıyaman G, Gökmenoğlu H, Küçükçongar A, Kasapkara Ç, Biberoğlu G, Tümer L, Hasanoğlu A
Metab Brain Dis 2014 Mar;29(1):211-3. Epub 2014 Jan 11 doi: 10.1007/s11011-014-9482-y. PMID: 24407464

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