Renal carnitine transport defect

disorder

SNOMED 21764004CUI C0342788

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.

Decreased plasma carnitine

Always present (100%)HP:0003234

Abnormal liver function

Very frequent (80-99%)HP:0002910

Acute encephalopathy

Very frequent (80-99%)HP:0006846

Clumsiness

Very frequent (80-99%)HP:0002312

Confusion

Very frequent (80-99%)HP:0001289

Enlarged liver

Very frequent (80-99%)HP:0002240

Flaccid neck

Very frequent (80-99%)HP:0000467

Muscle weakness

Very frequent (80-99%)HP:0001324

Secondary generalized tonic clonic seizures

Very frequent (80-99%)HP:0007334

Vomiting

Very frequent (80-99%)HP:0002013

Coma

Frequent (30-79%)HP:0001259

Dehydration

Frequent (30-79%)HP:0001944

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Alanine aminotransferase increased

Occasional (5-29%)HP:0031964

Diarrhea

Occasional (5-29%)HP:0002014

Dicarboxylic aciduria

Occasional (5-29%)HP:0003215

Elevated serum aspartate aminotransferase

Occasional (5-29%)HP:0031956

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Hypoglycemic episodes

Occasional (5-29%)HP:0001988

Laboured breathing

Occasional (5-29%)HP:0002098

Microvesicular steatosis

Occasional (5-29%)HP:0001414

Mitral regurgitation

Occasional (5-29%)HP:0001653

Proximal limb muscle weakness

Occasional (5-29%)HP:0003701

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Cardiomyopathy, hypertrophic

HP:0001639

Central hypotonia

HP:0001252

Chronic heart failure

HP:0001635

Decreased carnitine level in liver

HP:0045061

Dullness

HP:0001254

Encephalopathy

HP:0001298

Related Conditions

Hereditary nephropathy(parent)

Fatty acid oxidation defect(parent)

Metabolic renal disease(parent)

Quick Facts

SNOMED CT: 21764004
UMLS CUI: C0342788
Fully Specified Name: Renal carnitine transport defect (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.