D-Glyceric Aciduria (D-GA)

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Disease Ontology 12 DOID:0111626 OMIM 56 220120 KEGG 36 H02380 MeSH 43 C535767 D008661 ICD10 32 E72.59 MESH via Orphanet 44 C535767

ICD10 via Orphanet 33 E74.8 UMLS via Orphanet 72 C1291386 Orphanet 58 ORPHA941 MedGen 41 C0342765 C1291386 SNOMED-CT via HPO 68 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 71 C1291386 C3887877 C4078861

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 941 Definition D-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 propionic acidemia and microcephaly. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase), and among its related pathways/superpathways are Pentose phosphate pathway and Glycine, serine and threonine metabolism. Affiliated tissues include liver, and related phenotypes are sensorineural hearing impairment and intellectual disability

Disease Ontology : ¹² An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has material basis in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding D-glycerate kinase cause this disease.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ 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.