long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Findings
No curated finding names long chain 3-hydroxyacyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0012173), read 2026-09-29. CC BY 4.0.
Features
25 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.
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Frequent (30% to 79% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Frequent (30% to 79% of cases)
- ExotropiaHPOHP:0000577
- Frequent (30% to 79% of cases)
- Global developmental delay
Show the remaining 13
- Abnormal chorioretinal morphologyHPOHP:0000532
- Occasional (5% to 29% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- Cholestatic liver diseaseHPOHP:0002611
- Occasional (5% to 29% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- 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.
- HADHAHGNC:4801
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Also called
- fatty liver, acute, of pregnancyHELLP syndrome, maternal, of pregnancyLCHAD deficiencyLCHADDlong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency