Beta-aminoisobutyric Aciduria; Baiba
Description
Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).
Clinical Features
Phenotypes and symptoms related to Beta-aminoisobutyric Aciduria; Baiba
- Aminoaciduria
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
Beta-aminoisobutyric Aciduria; Baiba Is also known as hyper-beta-aminoisobutyric aciduria, beta-aminoisobutyric acid, urinary excretion of, baib urinary excretion.
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.Beta-aminoisobutyric Aciduria; Baiba Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics (United States).
RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)
View the complete list with 476 more genes
Specificity
1 %
Genes
100 % |
AGXT2.
By Fulgent Genetics Fulgent Genetics (United States).
AGXT2
Specificity
100 %
Genes
100 % |
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.
By Reference Laboratory Genetics (Spain).
SCP2, SGSH, SLC17A5, SMPD1, ACOX1, MCOLN1, AGXT2, NPC2, CAT, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, PEX26, GNPTG, LMBRD1, CTNS , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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