Carnitine palmitoyltransferase I deficiency

disorder

SNOMED 238001003CUI C1829703

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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Diarrhea

Always present (100%)HP:0002014

Dicarboxylic aciduria

Always present (100%)HP:0003215

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Feeding difficulties

Always present (100%)HP:0011968

Hypoketotic hypoglycemia

Always present (100%)HP:0001985

Hyporeflexia

Always present (100%)HP:0001265

No development of motor milestones

Always present (100%)HP:0001270

Recurrent encephalopathy

Always present (100%)HP:0007335

Abnormal liver function

Very frequent (80-99%)HP:0002910

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Behavioural/Psychiatric abnormality

Very frequent (80-99%)HP:0000708

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Epilepsy

Very frequent (80-99%)HP:0001250

Hepatic insufficiency

Very frequent (80-99%)HP:0001399

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Low blood sugar

Very frequent (80-99%)HP:0001943

Muscle atrophy, neurogenic

Very frequent (80-99%)HP:0003202

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Tiredness

Very frequent (80-99%)HP:0012378

Enlarged liver

Frequent (30-79%)HP:0002240

Fainting

Frequent (30-79%)HP:0007185

Languor

Frequent (30-79%)HP:0001254

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Stupor

Frequent (30-79%)HP:0001259

Transient hyperlipidemia

Frequent (30-79%)HP:0008279

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Renal tubular acidosis

Occasional (5-29%)HP:0001947

Sudden cardiac death

Occasional (5-29%)HP:0001645

Related Conditions

Carnitine palmitoyltransferase deficiency(parent)

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 238001003
UMLS CUI: C1829703
Fully Specified Name: Carnitine palmitoyltransferase I 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.