Deficiency of unsaturated acyl-CoA reductase

disorder

SNOMED 124166007CUI C0342783

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.

Central hypotonia

Very frequent (80-99%)HP:0001252

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Corticospinal signs

Frequent (30-79%)HP:0007256

Elevated circulating acylcarnitine concentration

Frequent (30-79%)HP:0045045

Ethylmalonic aciduria

Frequent (30-79%)HP:0003219

Feeding difficulties

Frequent (30-79%)HP:0011968

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased level of methylsuccinic acid in urine

Frequent (30-79%)HP:0410153

Metabolic acidosis

Frequent (30-79%)HP:0001942

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Weakness of face

Frequent (30-79%)HP:0030319

Ataxia

Occasional (5-29%)HP:0001251

Behavioural/Psychiatric abnormality

Occasional (5-29%)HP:0000708

Deformity of face

Occasional (5-29%)HP:0001999

Delayed language development

Occasional (5-29%)HP:0000750

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Dystonic disease

Occasional (5-29%)HP:0001332

Epilepsy

Occasional (5-29%)HP:0001250

External ophthalmoplegia

Occasional (5-29%)HP:0000544

Fatty liver

Occasional (5-29%)HP:0001397

Hypoglycemic encephalopathy

Occasional (5-29%)HP:0006929

Inactivity

Occasional (5-29%)HP:0001254

Ketotic hypoglycemia

Occasional (5-29%)HP:0012734

Laboured breathing

Occasional (5-29%)HP:0002098

Myopathy

Occasional (5-29%)HP:0003198

Psychosis

Occasional (5-29%)HP:0000709

Sutural cataract

Occasional (5-29%)HP:0010695

Decreased size of cranium

Very rare (1-4%)HP:0000252

Hypertonia

Very rare (1-4%)HP:0001276

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124166007
UMLS CUI: C0342783
Fully Specified Name: Deficiency of butyryl-CoA dehydrogenase (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.