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Start free with EleplanGlycogen storage disease due to aldolase A deficiency
ORPHA:57Disease
Also called GSD due to aldolase A deficiency · GSD type 12 · GSD type XII · Glycogen storage disease type 12 · Glycogen storage disease type XII · Glycogenosis due to aldolase A deficiency · Glycogenosis type 12 · Glycogenosis type XII
What it is
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (China)Glycogen storage disease
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
9Sometimes5–29%
10- Acute kidney injury
- Arrhythmia
- Decreased muscle mass
- Delayed speech and language development
- Growth delay
- Hyperkalemia
- Intellectual disability
- Motor delay
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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