HSD10 disease, neonatal type
Findings
No curated finding names HSD10 disease, neonatal type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
Definition from the Mondo Disease Ontology (MONDO:0018323), read 2026-09-29. CC BY 4.0.
Features
9 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)
- Abnormal concentration of acylcarnitine in the urineHPOHP:0500170
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- Very frequent (80% to 99% 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
4 names
Resolves to: HSD10 disease, neonatal type
- Also called
- 2-methyl-3-hydroxybutyric aciduria, neonatal type2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal typeHSD10 deficiency, neonatal typeMHBD deficiency, neonatal type