Carnitine acylcarnitine translocase deficiency

disorder

SNOMED 238003000CUI C0342791

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.

Fatty liver

Always present (100%)HP:0001397

Heart stops beating

Always present (100%)HP:0001695

Neonatal hypoglycemia

Always present (100%)HP:0001998

Reduced circulating 6-pyruvoyltetrahydropterin synthase activity

Always present (100%)HP:6000575

Reduced tissue carnitine-acylcarnitine translocase activity

Always present (100%)HP:6000574

Abnormal heart rate

Very frequent (80-99%)HP:0011675

Abnormal liver function

Very frequent (80-99%)HP:0002910

Breakdown of skeletal muscle

Very frequent (80-99%)HP:0003201

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased plasma carnitine

Very frequent (80-99%)HP:0003234

Disease of the heart muscle

Very frequent (80-99%)HP:0001638

Elevated circulating acylcarnitine concentration

Very frequent (80-99%)HP:0045045

Encephalopathy

Very frequent (80-99%)HP:0001298

Enlarged liver

Very frequent (80-99%)HP:0002240

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Hypotension

Very frequent (80-99%)HP:0002615

Increased creatine phosphokinase after exercise

Very frequent (80-99%)HP:0008331

Irritability

Very frequent (80-99%)HP:0000737

Low blood sugar when fasting

Very frequent (80-99%)HP:0003162

Muscle weakness

Very frequent (80-99%)HP:0001324

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Torpor

Very frequent (80-99%)HP:0001254

Ventricular tachycardia

Very frequent (80-99%)HP:0004756

Blue discoloration of the skin

Occasional (5-29%)HP:0000961

Decreased size of cranium

Occasional (5-29%)HP:0000252

Epilepsy

Occasional (5-29%)HP:0001250

Hepatic failure

Occasional (5-29%)HP:0001399

Hypothermia

Occasional (5-29%)HP:0002045

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Related Conditions

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 238003000
UMLS CUI: C0342791
Fully Specified Name: Carnitine acylcarnitine translocase 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.