Hyperammonemia Due To N-acetylglutamate Synthase Deficiency

Description

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperammonemia Due To N-acetylglutamate Synthase Deficiency

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Feeding difficulties
  • Visual impairment
  • Respiratory distress
  • Vomiting
  • Encephalopathy
  • Hypoglycemia

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hyperammonemia Due To N-acetylglutamate Synthase Deficiency Is also known as hyperammonemia due to n-acetylglutamate synthetase deficiency, n-acetylglutamate synthetase deficiency, nags deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyperammonemia Due To N-acetylglutamate Synthase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
NAGS Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NAGS
Specificity
100 %
Genes
100 %
NAGS Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

NAGS
Specificity
100 %
Genes
100 %
NAGS Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NAGS
Specificity
100 %
Genes
100 %
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
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 %
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
100 %

We have 28 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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