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GTR Home > Conditions/Phenotypes > 3-Methylglutaconic aciduria type 3

3-Methylglutaconic aciduria type 3

Synonyms
3-alpha methylglutaconic aciduria type III; 3-methylglutaconic aciduria type III; Costeff optic atrophy syndrome; Iraqi Jewish optic atrophy plus; MGA type III; OPA3, AUTOSOMAL RECESSIVE; OPA3-Related 3-Methylglutaconic Aciduria; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE; Optic atrophy infantile with chorea and spastic paraplegia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Costeff Syndrome
Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Yair Anikster
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Available tests

78 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (78 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MGA3, OPA3
    Summary: outer mitochondrial membrane lipid metabolism regulator OPA3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Molecular resources

Consumer resources

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