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Beta-aminoisobutyric acid, urinary excretion of(BAIBA)

MedGen UID:
347169
Concept ID:
C1859518
Disease or Syndrome
Synonyms: BAIB URINARY EXCRETION; Beta-aminoisobutyric aciduria; HYPER-BETA-AMINOISOBUTYRIC ACIDURIA
SNOMED CT: Beta-aminoisobutyric aciduria (21529005); BAIBA - beta-aminoisobutyric aciduria (21529005)
 
Gene (location): AGXT2 (5p13.2)
 
HPO: HP:0032480
Monarch Initiative: MONDO:0008860
OMIM®: 210100

Definition

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). [from OMIM]

Clinical features

From HPO
Beta-aminoisobutyric acid, urinary excretion of
MedGen UID:
347169
Concept ID:
C1859518
Disease or Syndrome
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeta-aminoisobutyric acid, urinary excretion of

Conditions with this feature

Beta-aminoisobutyric acid, urinary excretion of
MedGen UID:
347169
Concept ID:
C1859518
Disease or Syndrome
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).
Multiple mitochondrial dysfunctions syndrome 3
MedGen UID:
815495
Concept ID:
C3809165
Disease or Syndrome
Multiple mitochondrial dysfunctions syndrome-3 (MMDS3) is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).

Recent clinical studies

Etiology

Granot-Hershkovitz E, Spitzer B, Yang Y, Tarraf W, Yu B, Boerwinkle E, Fornage M, Mosley TH, DeCarli C, Kristal BS, González HM, Sofer T
Transl Psychiatry 2023 Apr 29;13(1):140. doi: 10.1038/s41398-023-02437-y. PMID: 37120436Free PMC Article
Shanmugasundaram D, Fan Q, Wang M, Yi R, Wang O
Int J Toxicol 2022 Aug;41(4):329-346. Epub 2022 May 13 doi: 10.1177/10915818221094487. PMID: 35549583

Clinical prediction guides

Lyssikatos C, Wang Z, Liu Z, Warden SJ, Brotto M, Bonewald L
Sci Rep 2023 Oct 11;13(1):17212. doi: 10.1038/s41598-023-44249-6. PMID: 37821627Free PMC Article
Granot-Hershkovitz E, Spitzer B, Yang Y, Tarraf W, Yu B, Boerwinkle E, Fornage M, Mosley TH, DeCarli C, Kristal BS, González HM, Sofer T
Transl Psychiatry 2023 Apr 29;13(1):140. doi: 10.1038/s41398-023-02437-y. PMID: 37120436Free PMC Article
Shanmugasundaram D, Fan Q, Wang M, Yi R, Wang O
Int J Toxicol 2022 Aug;41(4):329-346. Epub 2022 May 13 doi: 10.1177/10915818221094487. PMID: 35549583

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