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Start free with EleplanHyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
ORPHA:71212Disease
Also called Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency · Hyperinsulinism due to glutamodehydrogenase deficiency · SCHAD deficiency
What it is
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- 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
Very common80–99%
19- Abnormality of acetylcarnitine metabolism
- Confusion
- Diarrhea
- Dicarboxylic aciduria
- Elevated circulating hepatic transaminase concentration
- Fasting hyperinsulinemia
- Hepatic steatosis
- Hyperinsulinemic hypoglycemia
- Hypoglycemic encephalopathy
- Hypoglycemic seizures
- Hypoketotic hypoglycemia
- Increased circulating free fatty acid level
- Increased C-peptide level
- Intrauterine growth retardation
- Lethargy
- Neonatal hypoglycemia
- Neonatal hypotonia
- Proportionate short stature
- Vomiting
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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