L-2-Hydroxyglutaric Aciduria (L-2-HGA)
L-2-Hydroxyglutaric Aciduria (L-2-HGA)
Discussion
Key Comment: Two separate publications identify identical mutation in a total of three affected Yorkshire Terriers. Organic acid analysis demonstrated accumulation of 2-HG in urine of affected dogs
Genetics
Inheritance
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OMIA
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OMIA Variant
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OMIA URL
OMIN
Gene
Variants
Variants Comments
Testing
Test Types
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Assessments
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Assays
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Connections
- Updated