Alpha-methylacyl-CoA racemase deficiency disorder

disorder

SNOMED 700463002CUI C3280428

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.

Constriction of peripheral visual field

Always present (100%)HP:0001133

Elevated circulating phytanic acid concentration

Always present (100%)HP:0010571

Focal seizures

Always present (100%)HP:0007359

Hemiparesis

Always present (100%)HP:0001269

Increased reflexes

Always present (100%)HP:0001347

Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts

Always present (100%)HP:6000134

Retinitis pigmentosa

Always present (100%)HP:0000510

Terminal tremor

Always present (100%)HP:0002080

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Encephalopathy

Frequent (30-79%)HP:0001298

Epilepsy

Frequent (30-79%)HP:0001250

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Pigmentary retinal deposits

Frequent (30-79%)HP:0000580

Poor vision

Frequent (30-79%)HP:0000505

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal liver enzymes

Occasional (5-29%)HP:0002910

Ataxia

Occasional (5-29%)HP:0001251

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Cholestatic liver disease

Occasional (5-29%)HP:0002611

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Depressive episode

Occasional (5-29%)HP:0000716

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Gallstones

Occasional (5-29%)HP:0001081

Giant cell hepatitis on biopsy

Occasional (5-29%)HP:0200084

Hematochezia

Occasional (5-29%)HP:0002573

Homonymous hemianopia

Occasional (5-29%)HP:0030516

Intellectual deterioration

Occasional (5-29%)HP:0001268

Intermittent migraine headaches

Occasional (5-29%)HP:0002076

Lens opacities

Occasional (5-29%)HP:0000518

Related Conditions

General loss of peroxisomal function(parent)

Recessive hereditary disorder (autosomal)(parent)

Synthetic defect of bile acids(parent)

Quick Facts

SNOMED CT: 700463002
UMLS CUI: C3280428
Fully Specified Name: Alpha-methylacyl-CoA racemase deficiency disorder (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.