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GTR Home > Conditions/Phenotypes > Arginase deficiency

Arginase deficiency

Synonyms
ARG1 deficiency; Argininemia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Arginase Deficiency
Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily. Individuals treated from birth, either as a result of newborn screening or having an affected older sib, appear to have minimal symptoms.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Angela Sun
Eric A Crombez
Derek Wong
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Available tests

82 tests are in the database for this condition.

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Clinical tests (82 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, Argininemia 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Increased Arginine] Argininemia, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Arginine Elevated Algorithm, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Arginase Deficiency (argininemia, hyperargininemia, ARG1 deficiency), Urea Cycle Disorder, 2012

Molecular resources

Consumer resources

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