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adenylosuccinase lyase deficiency

ICD-10: E79.8MeSH: C538235ORPHA: 46

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

a rare autosomal recessive metabolic disorder

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with adenylosuccinase lyase deficiency, sourced from HPO and Orphanet clinical annotations.

Thin upper lip vermilionBrachycephalyMicrocephalySmooth philtrumLong philtrumLow-set earsAnteverted naresIntellectual disabilitySeizureGeneralized hypotoniaAbsent speechAbnormal facial shapeShort noseFlat occiputProminent metopic ridgeHypointensity of cerebral white matter on MRISevere global developmental delay

Classification & Codes

ICD-10 Code

E79.8

MeSH Code

C538235

Orphanet Code

ORPHA:46
adenylosuccinase lyase deficiency
ICD-10E79.8
MeSHC538235
OrphanetORPHA:46
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO