D-glyceric aciduria

Preferred Label : D-glyceric aciduria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : D-glyceric acidemia; Glycerate kinase deficiency;

Description : D-glyceric aciduria is a very 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, while others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycerate kinase gene (GLYCTK, 610516.0001);

Laboratory abnormalities : Increased D-glyceric acid in serum, urine, and CSF;

Prefixed ID : #220120;

Details

Origin ID

220120;

UMLS CUI

C0342765;

Automatic exact mappings (from CISMeF team)
- D-glyceric aciduria [DO Concept]
- Deficiency of glycerate kinase (disorder) [SNOMED CT concept]
- hyperoxaluria, primary [MeSH Descriptor]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
- primary hyperoxaluria, type ii [SNOMED Notion]
Currated CISMeF NLP mapping
- D-Glyceric Aciduria [NCIt concept]
- D-Glyceric aciduria (disorder) [SNOMED CT concept]
- D-glyceric acidaemia [ICD-11 More detail]
- D-glyceric aciduria [ORDO Disease]
- D-glycericacidemia [MeSH concept]
- D-glycericacidemia [MeSH Supplementary Concept]
DO Cross reference
- D-glyceric aciduria [DO Concept]
Genes related to phenotype
- Glycerate kinase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Delayed myelination [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Neonatal hypotonia [HPO term]
- Nonketotic hyperglycinemia [HPO term]
- Opisthotonus [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- D-glyceric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- D-Glyceric Aciduria [NCIt concept]
- D-Glyceric aciduria (disorder) [SNOMED CT concept]

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