D-Glyceric Aciduria

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OMIM 57 220120 Orphanet 59 ORPHA941 MESH via Orphanet 45 C535767 UMLS via Orphanet 74 C1291386 ICD10 via Orphanet 34 E74.8

MedGen 42 C0342765 C1291386 MeSH 44 D008661 SNOMED-CT via HPO 69 258211005 271611007 60700002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 81308009 205294008 127324008 17450006 86854008 36440009 432788009 276617005 444896005 59576002 59455009 278849000 8652009 192965001 28055006 35912001 237939006 135810007 more UMLS 73 C1291386 C3887877 C4078861

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 941Disease definitionD-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.Visit the Orphanet disease page for more resources.

MalaCards based summary : D-Glyceric Aciduria, also known as d-glyceric acidemia, is related to west syndrome. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Related phenotypes are intellectual disability and seizures

OMIM : ⁵⁷ D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010). (220120)

UniProtKB/Swiss-Prot : ⁷⁵ D-glyceric aciduria: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development.

Wikipedia : ⁷⁶ D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn... more...

Clinical features from OMIM:

220120

Search Clinical Trials , NIH Clinical Center for D-Glyceric Aciduria

Search GEO for disease gene expression data for D-Glyceric Aciduria.