Argininosuccinate lyase deficiency

disorder

SNOMED 41013004CUI C0268547

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.

Elevated CSF argininosuccinic acid concentration

Always present (100%)HP:0034734

Abnormal urinary amino-acid findings

Very frequent (80-99%)HP:0003355

Arginine deficiency

Very frequent (80-99%)HP:0005961

High blood ammonia levels

Very frequent (80-99%)HP:0001987

High plasma glutamine

Very frequent (80-99%)HP:0003217

Abnormal liver function

Frequent (30-79%)HP:0002910

Argininosuccinic aciduria

Frequent (30-79%)HP:0025630

Ataxia

Frequent (30-79%)HP:0001251

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Elevated plasma citrulline

Frequent (30-79%)HP:0011966

Enlarged liver

Frequent (30-79%)HP:0002240

Epilepsy

Frequent (30-79%)HP:0001250

High blood pressure

Frequent (30-79%)HP:0000822

Increased circulating argininosuccinic acid

Frequent (30-79%)HP:0032491

Languor

Frequent (30-79%)HP:0001254

Mental deficiency

Frequent (30-79%)HP:0001249

Monilethrix

Frequent (30-79%)HP:0032470

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Respiratory alkalosis

Frequent (30-79%)HP:0001950

Sleepy

Frequent (30-79%)HP:0002329

Specific learning disability

Frequent (30-79%)HP:0001328

Tachypnea

Frequent (30-79%)HP:0002789

Vomiting

Frequent (30-79%)HP:0002013

Abnormal hair quantity

Occasional (5-29%)HP:0011362

Alopecia areata

Occasional (5-29%)HP:0002232

Cardiac arrhythmias

Occasional (5-29%)HP:0011675

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Chronic pancreas inflammation

Occasional (5-29%)HP:0006280

Cirrhosis

Occasional (5-29%)HP:0001394

Dental cavities

Occasional (5-29%)HP:0000670

Related Conditions

Disorder of the urea cycle metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Specific enzyme deficiency(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 41013004
UMLS CUI: C0268547
Fully Specified Name: Argininosuccinate lyase 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.