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Carnosinemia

Known as: Carnosinase Deficiency 
A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with… 
National Institutes of Health

Related topics

Related topics

2 relations
Homocarnosinase deficiencyHomocarnosinosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
[Carnosinemia].
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… 
2012
2012
Low plasma carnosinase activity promotes carnosinemia following
21 Objectives A polymorphism in the CNDP1 gene, resulting in decreased plasma carnosinase activity, 22 is associated with a… 
2012
2012
Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
Genetic defects have been described in five of the six steps of the γ-glutamyl cycle. Glutathione-synthetase deficiency is the… 
2007
2007
Polymorphism in the CNDP 1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells
Recently, we demonstrated that a polymorphism in exon 2 of the serum carnosinase (CNDP1) gene is associated with susceptibility… 
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… 
1981
1981
[Carnosinemia (author's transl)].
1980
1980
[Carnosinemia. First French case].
1977
1977
A VARIANT OF CARNOSINEMIA WITH NORMAL SERUM CARNOSINASE ACTIVITY IN AN INFANT
The six week old son of a first cousin marriage presented with hyperammonemia, transient acidosts, hepatosplenomegaly, failure to… 
1970
1970
A new sensitive method for the determination of serum carnosinase activity using l-carnosine-[I-14C] beta-alanyl as substrate.
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