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.


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Beta-aminoisobutyric Aciduria; Baiba Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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