Myopathic form of carnitine palmitoyltransferase II deficiency

disorder

SNOMED 1187514002CUI C1833508

Overview

Myopathic form of carnitine palmitoyltransferase II 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.

Muscle pain

Very frequent (80-99%)HP:0003326

Muscle pain with exercise

Very frequent (80-99%)HP:0003738

Myoglobinuria

Very frequent (80-99%)HP:0002913

Poor exercise tolerance

Very frequent (80-99%)HP:0003546

Red-brown urine

Very frequent (80-99%)HP:0040320

Reduced tissue carnitine O-palmitoyltransferase 2 activity

Very frequent (80-99%)HP:0012380

Elevated circulating acylcarnitine concentration

Frequent (30-79%)HP:0045045

Elevated long chain fatty acids

Frequent (30-79%)HP:0003455

Muscle fiber atrophy

Frequent (30-79%)HP:0100295

Muscle weakness

Frequent (30-79%)HP:0001324

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Cold-induced muscle cramps

Occasional (5-29%)HP:0003449

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

End-stage renal disease

Occasional (5-29%)HP:0003774

Increased muscle lipid content

Occasional (5-29%)HP:0009058

Intermittent painful muscle spasms

Occasional (5-29%)HP:0011964

Muscle cramps with exertion

Occasional (5-29%)HP:0003710

Muscle spasm

Occasional (5-29%)HP:0003394

Renal insufficiency

Occasional (5-29%)HP:0000083

Renal tubular epithelial necrosis

Occasional (5-29%)HP:0008682

Tubulointerstitial nephritis

Occasional (5-29%)HP:0001970

Muscle stiffness

HP:0003552

Related Conditions

CPTII - Carnitine palmitoyltransferase deficiency type II(parent)

Disorder of muscle(parent)

Quick Facts

SNOMED CT: 1187514002
UMLS CUI: C1833508
Fully Specified Name: Myopathic form of carnitine palmitoyltransferase II deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.