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Homocarnosinase deficiency

Known as: CARNOSINASE DEFICIENCY 
National Institutes of Health

Related topics

Related topics

2 relations
CarnosinemiaHomocarnosinosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Impairment of Electron Transfer Chain Induced by Acute Carnosine Administration in Skeletal Muscle of Young Rats
Serum carnosinase deficiency is an inherited disorder that leads to an accumulation of carnosine in the brain tissue… 
Highly Cited
1993
Highly Cited
1993
Inherited disorders of GABA metabolism
SummaryGamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced… 
1987
1987
A fluorometric micromethod for estimation of carnosinase in dried blood samples.
Review
1986
Review
1986
Beta-amino acids: mammalian metabolism and utility as alpha-amino acid analogues.
PERSPECTIVES AND SUMMARY… 
1983
1983
Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine.
1982
1982
Serum carnosinase deficiency: Decreased affinity of the enzyme for the substrate
Human serum contains carnosinase (EC 3.4.13.4) which catalyses the hydrolysis of 13-alanylhistidine (carnosine) to 13-alanine and… 
Review
1981
Review
1981
NEUROLOGICAL DISEASE IN A CHILD WITH CARNOSINASE DEFICIENCY
Carnosinase deficiency presented as a progressive neurological problem with sensory polyneuropathy in a 12-year-old male… 
1975
1975
Carnosinase activity of human gastrointestinal mucosa.
Carnosinase, the dipeptidase which hydrolyses carnosine and other histidine-containing dipeptides, was assayed in mucosal tissues… 
1975
1975
Plasma carnosinase deficiency in patients with urea cycle defects.
Highly Cited
1968
Highly Cited
1968
Serum-carnosinase deficiency in carnosinaemia.
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