D-Glyceric Aciduria (D-GA)

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OMIM 58 220120 MeSH 45 D008661 MESH via Orphanet 46 C535767 ICD10 via Orphanet 35 E74.8 UMLS via Orphanet 75 C1291386

Orphanet 60 ORPHA941 MedGen 43 C0342765 C1291386 SNOMED-CT via HPO 70 127324008 128613002 135810007 17450006 192965001 205294008 224958001 228156007 237939006 246545002 247578003 258211005 271611007 276617005 278849000 28055006 313307000 35912001 36440009 432788009 444896005 59455009 59576002 60700002 81308009 84757009 8652009 86854008 91138005 91175000 more UMLS 74 C1291386 C3887877 C4078861

NIH Rare Diseases : ⁵⁴ 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 metabolic acidosis and west syndrome. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Related phenotypes are sensorineural hearing impairment and intellectual disability

OMIM : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ 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.