Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

disorder

SNOMED 726021008CUI C3711645

Overview

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Low blood sugar

Very frequent (80-99%)HP:0001943

Photophobia

Very frequent (80-99%)HP:0000613

Abnormal ERG

Frequent (30-79%)HP:0000512

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Central hypotonia

Frequent (30-79%)HP:0001252

Enlarged liver

Frequent (30-79%)HP:0002240

Laboratory abnormality

Frequent (30-79%)HP:0001939

Mental and motor retardation

Frequent (30-79%)HP:0001263

Outward facing eye ball

Frequent (30-79%)HP:0000577

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Visual loss

Frequent (30-79%)HP:0000572

Abnormal chorioretinal morphology

Occasional (5-29%)HP:0000532

Abnormality of RPE

Occasional (5-29%)HP:0007703

Cholestatic liver disease

Occasional (5-29%)HP:0002611

Chorioretinal atrophy

Occasional (5-29%)HP:0000533

Difficulties with night vision

Occasional (5-29%)HP:0000662

Dull intelligence

Occasional (5-29%)HP:0001249

Feeding difficulties

Occasional (5-29%)HP:0011968

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Near sighted

Occasional (5-29%)HP:0000545

Noninflammatory retina disease

Occasional (5-29%)HP:0000488

Poor weight gain

Occasional (5-29%)HP:0001508

Posterior staphyloma

Occasional (5-29%)HP:0030856

Seizures

Occasional (5-29%)HP:0001250

Disease of the heart muscle

HP:0001638

Retinal pigmentary degeneration

HP:0000580

Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

HP:0100950

Sudden death

HP:0001699

Related Conditions

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 726021008
UMLS CUI: C3711645
Fully Specified Name: Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.