Argininosuccinic Aciduria

Description

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

Clinical Features

Top most frequent phenotypes and symptoms related to Argininosuccinic Aciduria

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Edema

And another 35 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available ARGININOSUCCINIC ACIDURIA have a estimated birth prevalence of 0.46 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Argininosuccinic Aciduria Is also known as argininosuccinic acid lyase deficiency, asa deficiency, argininosuccinase deficiency, argininosuccinatelyase deficiency, argininosuccinate lyase deficiency, asl deficiency.

Researches and researchers

Doctors, researchs, and experts related to Argininosuccinic Aciduria extracted from public data.

Argininosuccinic Aciduria Experts map



Current Researchs and researchers

  • ZÜRICH — Dr Carmen DIEZ-FERNANDEZ

    Investigator of research project

    • Institution/s:
      — Universitäts - Kinderspital Zürich - Eleonorenstiftung
    • Research area/topic::

      Understanding phenotypic variability of Urea cycle disorders


  • ZÜRICH — Pr Johannes HÄBERLE

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitäts - Kinderspital Zürich - Eleonorenstiftung
    • Research area/topic::

      Understanding phenotypic variability of Urea cycle disorders



Mendelian

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Argininosuccinic Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ASL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ASL
Specificity
100 %
Genes
100 %
ASL Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

ASL
Specificity
100 %
Genes
100 %
ASL Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ASL
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

NAGS, ARG1, ASL, ASS1, OTC
Specificity
20 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %

We have 52 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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