Adenylosuccinate lyase deficiency

disorder

SNOMED 15285008CUI C0268126

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 urinary succinyladenosine level

Always present (100%)HP:6000113

Elevated urinary succinylaminoimidazole carboxamide riboside level

Always present (100%)HP:6000390

Mental and motor retardation

Always present (100%)HP:0001263

Cerebral atrophy

Very frequent (80-99%)HP:0002059

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Dull intelligence

Very frequent (80-99%)HP:0001249

Flat back of skull

Very frequent (80-99%)HP:0005469

Flat philtrum

Very frequent (80-99%)HP:0000319

Hypointensity of cerebral white matter on MRI

Very frequent (80-99%)HP:0007103

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Low-set ears

Very frequent (80-99%)HP:0000369

Malformation of face

Very frequent (80-99%)HP:0001999

No speech development

Very frequent (80-99%)HP:0001344

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Prominent frontal suture

Very frequent (80-99%)HP:0005487

Seizures

Very frequent (80-99%)HP:0001250

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Small nose

Very frequent (80-99%)HP:0003196

Wide skull shape

Very frequent (80-99%)HP:0000248

Central hypotonia

Frequent (30-79%)HP:0001252

CNS hypomyelination

Frequent (30-79%)HP:0003429

Poor eye contact

Frequent (30-79%)HP:0000817

Squint

Frequent (30-79%)HP:0000486

Happy demeanour

Occasional (5-29%)HP:0040082

Paralysis on one side of body

Occasional (5-29%)HP:0002301

Aggression

HP:0000718

Arc de cercle

HP:0002179

Autism

HP:0000717

Brisk deep tendon reflexes

HP:0001348

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Disorder of purine metabolism(parent)

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 15285008
UMLS CUI: C0268126
Fully Specified Name: Adenylosuccinate 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.