CPTII - Carnitine palmitoyltransferase deficiency type II

disorder

SNOMED 238002005CUI C0342790

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.

Muscle pain

Very frequent (80-99%)HP:0003326

Muscle weakness

Very frequent (80-99%)HP:0001324

Reduced tissue carnitine O-palmitoyltransferase 2 activity

Very frequent (80-99%)HP:0012380

Decreased plasma free carnitine

Frequent (30-79%)HP:0008315

Decreased plasma total carnitine

Frequent (30-79%)HP:0011936

Elevated circulating acylcarnitine concentration

Frequent (30-79%)HP:0045045

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Hyperlipidemia

Frequent (30-79%)HP:0003077

Muscle pain with exercise

Frequent (30-79%)HP:0003738

Myoglobinuria

Frequent (30-79%)HP:0002913

Myopathy

Frequent (30-79%)HP:0003198

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Red-brown urine

Frequent (30-79%)HP:0040320

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Cold-induced muscle cramps

Occasional (5-29%)HP:0003449

End-stage renal disease

Occasional (5-29%)HP:0003774

Enlarged liver

Occasional (5-29%)HP:0002240

Episodic abdominal pain

Occasional (5-29%)HP:0002574

Headache

Occasional (5-29%)HP:0002315

Intermittent painful muscle spasms

Occasional (5-29%)HP:0011964

Muscle cramps with exertion

Occasional (5-29%)HP:0003710

Renal tubular epithelial necrosis

Occasional (5-29%)HP:0008682

Seizures

Occasional (5-29%)HP:0001250

Tubulointerstitial nephritis

Occasional (5-29%)HP:0001970

Abnormal brain morphology

Very rare (1-4%)HP:0012443

Abnormal deposits of calcium in the brain

Very rare (1-4%)HP:0002514

Abnormal heart rate

Very rare (1-4%)HP:0011675

Abnormality of neuronal migration

Very rare (1-4%)HP:0002269

Abnormality of the basal ganglia

Very rare (1-4%)HP:0002134

Absence of corpus callosum

Very rare (1-4%)HP:0001274

Related Conditions

Severe infantile form of carnitine palmitoyltransferase II deficiency(child)

Neonatal form of carnitine palmitoyltransferase II deficiency(child)

Myopathic form of carnitine palmitoyltransferase II deficiency(child)

Carnitine palmitoyltransferase deficiency(parent)

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 238002005
UMLS CUI: C0342790
Fully Specified Name: Carnitine palmitoyltransferase II 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.