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Start free with EleplanD-glyceric aciduria
ORPHA:941Disease
Also called D-glycerate kinase deficiency · D-glyceric acidemia
What it is
A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
11Sometimes5–29%
12- Autistic behavior
- Brain atrophy
- Cerebral visual impairment
- Chorea
- Hearing impairment
- Hypoplasia of the corpus callosum
- Loss of consciousness
- Myoclonus
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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