Skip to
  1. Homepage
  2. Rare diseases
  3. Search
PrintPrint
Simple search

Simple search

*
(*) mandatory field





Other search option(s)

D-glycericacidemia

Orpha number ORPHA941
Prevalence of rare diseases Unknown
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD 10 code -
MIM number
Synonym(s) D-glycerate kinase deficiency

Summary

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. *Author: Orphanet (June 2006)*.

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Languages :