HSD10 disease, infantile type
Findings
No curated finding names HSD10 disease, infantile type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.
Definition from the Mondo Disease Ontology (MONDO:0018322), read 2026-09-29. CC BY 4.0.
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of mitochondrial metabolismHPOHP:0003287
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- Abnormal concentration of acylcarnitine in the urineHPOHP:0500170
- Frequent (30% to 79% of cases)
- BlindnessHPOHP:0000618
- Frequent (30% to 79% of cases)
Show the remaining 39
- Lactic acidosisHPOHP:0003128
- Frequent (30% to 79% of cases)
- Metabolic acidosisHPOHP:0001942
- Frequent (30% to 79% of cases)
- Moderate global developmental delayHPOHP:0011343
- Frequent (30% to 79% of cases)
- NeurodegenerationHPOHP:0002180
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HSD17B10HGNC:4800
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: HSD10 disease, infantile type
- Also called
- 2-methyl-3-hydroxybutyric aciduria, classic type2-methyl-3-hydroxybutyric aciduria, infantile type2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile typeHSD10 deficiency, classic typeHSD10 deficiency, infantile typeHSD10 disease, classic typeMHBD deficiency, classic typeMHBD deficiency, infantile type