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Acyl-CoA oxidase deficiency

disorder
SNOMED 238069004CUI C1849678

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.

Hypotonia, in neonatal onset
Always present (100%)HP:0001319
Reduced circulating acyl-CoA oxidase activity
Always present (100%)HP:6000217
Very long chain fatty acid accumulation
Always present (100%)HP:0008167
Abnormal ERG
Very frequent (80-99%)HP:0000512
Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Abnormal visual evoked responses
Very frequent (80-99%)HP:0000649
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Cognitive delay
Very frequent (80-99%)HP:0001263
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Epilepsy
Very frequent (80-99%)HP:0001250
Gait disturbance
Very frequent (80-99%)HP:0001288
Increased reflexes
Very frequent (80-99%)HP:0001347
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Psychomotor regression beginning in infancy
Very frequent (80-99%)HP:0002376
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Deglutition disorder
Frequent (30-79%)HP:0002015
Enlarged liver
Frequent (30-79%)HP:0002240
Extensor plantar responses
Frequent (30-79%)HP:0003487
Flat nasal bridge
Frequent (30-79%)HP:0005280
Increased distance between eyes
Frequent (30-79%)HP:0000316
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Low-set ears
Frequent (30-79%)HP:0000369
Near sighted
Frequent (30-79%)HP:0000545
Optic atrophy
Frequent (30-79%)HP:0000648
Palpebronasal fold
Frequent (30-79%)HP:0000286
Poor weight gain
Frequent (30-79%)HP:0001508
Respiratory function loss
Frequent (30-79%)HP:0002093

Related Conditions

Loss of single peroxisomal function(parent)
Degenerative disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT
238069004
UMLS CUI
C1849678
Fully Specified Name
Acyl-coenzyme A oxidase 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.