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Glutaryl-CoA dehydrogenase deficiency

disorder
SNOMED 360416003CUI C0268595

Overview

Glutaryl-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.

3-hydroxyglutaric acid high in urine
Always present (100%)HP:0034656
Elevated circulating O-glutarylcarnitine concentration
Always present (100%)HP:0033442
Reduced peroxisomal glutaryl-CoA oxidase activity
Always present (100%)HP:0034688
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormality of the basal ganglia
Very frequent (80-99%)HP:0002134
Enlarged lateral sulcus
Very frequent (80-99%)HP:0100952
Glutaricaciduria
Very frequent (80-99%)HP:0003150
Abnormal caudate nucleus morphology
Frequent (30-79%)HP:0002339
Abnormal putamen morphology
Frequent (30-79%)HP:0031982
Acute encephalopathy
Frequent (30-79%)HP:0006846
Athetoid movements
Frequent (30-79%)HP:0002305
Big calvaria
Frequent (30-79%)HP:0000256
Communicating hydrocephalus
Frequent (30-79%)HP:0001334
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic movements
Frequent (30-79%)HP:0001332
Encephalopathy
Frequent (30-79%)HP:0001298
Feeding difficulties
Frequent (30-79%)HP:0011968
Headache
Frequent (30-79%)HP:0002315
Inability to walk
Frequent (30-79%)HP:0002540
Incoordination
Frequent (30-79%)HP:0002311
Increased head circumference
Frequent (30-79%)HP:0040194
Irritable mood
Frequent (30-79%)HP:0000737
Nonverbal
Frequent (30-79%)HP:0001344
Open operculum
Frequent (30-79%)HP:0100954
Pallidal degeneration
Frequent (30-79%)HP:0007132
Progressive macrocephaly
Frequent (30-79%)HP:0004481
Subependymal nodules
Frequent (30-79%)HP:0009716
T2 hypointense basal ganglia
Frequent (30-79%)HP:0012753
Widened subarachnoid spaces
Frequent (30-79%)HP:0012704

Related Conditions

Disorder of lysine and hydroxylysine metabolism(parent)
Inherited metabolic disorder of nervous system(parent)
Glutaric aciduria(parent)
Inborn error of amino acid metabolism(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
360416003
UMLS CUI
C0268595
Fully Specified Name
Glutaryl-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.