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Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.
N Engl J Med. 1966 Mar 24; 274(12):635-43.NEJM

Abstract

Hyper-beta-alaninemia was found in a somnolent, convulsing infant. Hyper-beta-aminoaciduria (beta-ala, betaAIB and taurine) was also observed, varying directly with plasma beta-alanine concentration. The beta-aminoaciduria is explained by the interaction between beta-alanine and a specific cellular-transport system with preference for beta-amino compounds. Gamma-aminobutyricaciduria was also observed, its excretion being independent of beta-alanine levels. Dietary modifications, pyridoxine, pantothenic acid and antibiotic therapy were not beneficial. Post-mortem tissues had elevated levels of beta-alanine and carnosine; GABA levels in brain were probably elevated for the age of the patient. A proposed block in beta-alanine-alpha-ketoglutarate transaminase would expand the free beta-alanine pool, thus increasing tissue carnosine. beta-Alanine is a central-nervous-system depressant. Associated inhibition of GABA transaminase and displacement of GABA from central-nervous-system binding sites would produce GABAuria and convulsions.

Authors+Show Affiliations

Department of Pediatrics, McGill University, Montreal, Quebec.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17926374

Citation

Scriver, C R., et al. "Hyper-beta-alaninemia Associated With Beta-aminoaciduria and Gamma-aminobutyricaciduaia, Somnolence and Seizures." The New England Journal of Medicine, vol. 274, no. 12, 1966, pp. 635-43.
Scriver CR, Pueschel S, Davies E. Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures. N Engl J Med. 1966;274(12):635-43.
Scriver, C. R., Pueschel, S., & Davies, E. (1966). Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures. The New England Journal of Medicine, 274(12), 635-43.
Scriver CR, Pueschel S, Davies E. Hyper-beta-alaninemia Associated With Beta-aminoaciduria and Gamma-aminobutyricaciduaia, Somnolence and Seizures. N Engl J Med. 1966 Mar 24;274(12):635-43. PubMed PMID: 17926374.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures. AU - Scriver,C R, AU - Pueschel,S, AU - Davies,E, PY - 1966/3/24/pubmed PY - 2007/10/20/medline PY - 1966/3/24/entrez SP - 635 EP - 43 JF - The New England journal of medicine JO - N Engl J Med VL - 274 IS - 12 N2 - Hyper-beta-alaninemia was found in a somnolent, convulsing infant. Hyper-beta-aminoaciduria (beta-ala, betaAIB and taurine) was also observed, varying directly with plasma beta-alanine concentration. The beta-aminoaciduria is explained by the interaction between beta-alanine and a specific cellular-transport system with preference for beta-amino compounds. Gamma-aminobutyricaciduria was also observed, its excretion being independent of beta-alanine levels. Dietary modifications, pyridoxine, pantothenic acid and antibiotic therapy were not beneficial. Post-mortem tissues had elevated levels of beta-alanine and carnosine; GABA levels in brain were probably elevated for the age of the patient. A proposed block in beta-alanine-alpha-ketoglutarate transaminase would expand the free beta-alanine pool, thus increasing tissue carnosine. beta-Alanine is a central-nervous-system depressant. Associated inhibition of GABA transaminase and displacement of GABA from central-nervous-system binding sites would produce GABAuria and convulsions. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/17926374/Hyper_beta_alaninemia_associated_with_beta_aminoaciduria_and_gamma_aminobutyricaciduaia_somnolence_and_seizures_ L2 - https://www.nejm.org/doi/10.1056/NEJM196603242741201?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -