Argininemia

Description

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

Clinical Features

Top most frequent phenotypes and symptoms related to Argininemia

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Spasticity
  • Feeding difficulties
  • Hepatomegaly

And another 48 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Argininemia Is also known as arg1 deficiency, arginase deficiency, hyperargininemia.

Researches and researchers

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

Argininemia 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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Argininemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARG1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARG1
Specificity
100 %
Genes
50 %
ARG1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARG1
Specificity
100 %
Genes
50 %
ARG1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ARG1
Specificity
100 %
Genes
50 %
ARG1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ARG1
Specificity
100 %
Genes
50 %
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
50 %
Comprehensive Mitochondrial Metabolic Panel.

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

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
50 %
Urea Cycle Disorders.

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

NAGS, ARG1, ASL, ASS1, OTC
Specificity
20 %
Genes
50 %
Urea Cycle Disease Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SLC25A13, SLC25A15, SLC7A7, CA5A, NAGS, GLUD1, ARG1, ASL, ASS1, OTC
Specificity
10 %
Genes
50 %

We have 55 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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