Ornithine carbamoyltransferase deficiency

disorder

SNOMED 80908008CUI C0268542

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.

Abnormal urinary amino-acid findings

Very frequent (80-99%)HP:0003355

Elevated circulating uracil concentration

Very frequent (80-99%)HP:0033139

Hepatic insufficiency

Very frequent (80-99%)HP:0001399

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Large spleen

Very frequent (80-99%)HP:0001744

Low blood sugar

Very frequent (80-99%)HP:0001943

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Central hypotonia

Frequent (30-79%)HP:0001252

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Elevated serum transaminases

Frequent (30-79%)HP:0002910

Encephalopathy

Frequent (30-79%)HP:0001298

Hypoargininemia

Frequent (30-79%)HP:0005961

Hypothermia

Frequent (30-79%)HP:0002045

Inactivity

Frequent (30-79%)HP:0001254

Low plasma citrulline

Frequent (30-79%)HP:0003572

Obsessive dieting

Frequent (30-79%)HP:0002039

Oroticaciduria

Frequent (30-79%)HP:0003218

Poor sucking

Frequent (30-79%)HP:0002033

Protein avoidance

Frequent (30-79%)HP:0002038

Respiratory alkalosis

Frequent (30-79%)HP:0001950

Seizures

Frequent (30-79%)HP:0001250

Sleepy

Frequent (30-79%)HP:0002329

Trance

Frequent (30-79%)HP:0001259

Vomiting

Frequent (30-79%)HP:0002013

Altered consciousness or cognition

Occasional (5-29%)HP:0031258

Cerebral vascular events

Occasional (5-29%)HP:0001297

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cognitive delay

Occasional (5-29%)HP:0001263

Conjugated hyperbilirubinemia

Occasional (5-29%)HP:0002908

Depression

Occasional (5-29%)HP:0000716

Related Conditions

Hyperammonemia(parent)

Sex-linked hereditary disorder(parent)

Enzymopathy(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 80908008
UMLS CUI: C0268542
Fully Specified Name: Ornithine carbamoyltransferase 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.