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Start free with EleplanGlutamate-cysteine ligase deficiency
ORPHA:33574Disease
Also called Gamma-glutamylcysteine synthetase deficiency
What it is
A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Sometimes5–29%
10- Ataxia
- Dysarthria
- Dyslexia
- Global developmental delay
- Hepatosplenomegaly
- Hyperreflexia
- Intellectual disability
- Jaundice
and 2 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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