Very long chain acyl-CoA dehydrogenase deficiency

disorder

SNOMED 237997005CUI C3887523

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Cardiomyopathy, hypertrophic

Always present (100%)HP:0001639

Decreased plasma carnitine

Always present (100%)HP:0003234

Episodic vomiting

Always present (100%)HP:0002572

Fatty liver

Always present (100%)HP:0001397

Peripheral hypotonia

Always present (100%)HP:0001252

Decreased size of cranium

Frequent (30-79%)HP:0000252

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Increased circulating free fatty acid level

Frequent (30-79%)HP:0030781

Increased heart size

Frequent (30-79%)HP:0001640

Necrotizing enterocolitis

Frequent (30-79%)HP:0033165

Periportal fibrosis

Frequent (30-79%)HP:0001405

Reduced ejection fraction

Frequent (30-79%)HP:0012664

Respiratory arrest

Frequent (30-79%)HP:0005943

Abnormal liver function tests

Occasional (5-29%)HP:0002910

Atria septal defect

Occasional (5-29%)HP:0001631

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Enlarged liver

Occasional (5-29%)HP:0002240

Episodic tachypnea

Occasional (5-29%)HP:0002876

Feeding difficulties

Occasional (5-29%)HP:0011968

Hypoketotic hypoglycemia

Occasional (5-29%)HP:0001985

Hypothermia

Occasional (5-29%)HP:0002045

Laboured breathing

Occasional (5-29%)HP:0002098

Overweight

Occasional (5-29%)HP:0025502

PFO

Occasional (5-29%)HP:0001655

Rhabdomyolysis with exercise

Occasional (5-29%)HP:0009045

VSD

Occasional (5-29%)HP:0001629

Yellowing of the skin

Occasional (5-29%)HP:0000952

Anteriorly displaced anus

Very rare (1-4%)HP:0001545

Atrioventricular nodal disease

Very rare (1-4%)HP:0001678

Related Conditions

Acyl-CoA dehydrogenase deficiency(parent)

Quick Facts

SNOMED CT: 237997005
UMLS CUI: C3887523
Fully Specified Name: Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.