Skip to search formSkip to main contentSkip to account menu

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.
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
2012
Highly Cited
2012
Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans.
A polymorphism in the carnosine dipeptidase-1 gene (CNDP1), resulting in decreased plasma carnosinase activity, is associated… 
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… 
2008
2008
Serum carnosinase deficiency: a non-disabling phenotype?
Serum carnosinase deficiency (McKusick 21220) is a rare condition, described in 13 cases. Ten additional individuals with serum… 
Review
1986
Review
1986
Beta-amino acids: mammalian metabolism and utility as alpha-amino acid analogues.
PERSPECTIVES AND SUMMARY… 
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… 
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… 
1973
1973
Serum Carnosinase Deficiency Concomitant with Mental Retardation
Extract: A family was studied in which two boys with progressive neurologic disease exhibited carnosinemia (20–30 μUmol/ml serum… 
1970
1970
A new sensitive method for the determination of serum carnosinase activity using l-carnosine-[I-14C] beta-alanyl as substrate.
Highly Cited
1967
Highly Cited
1967
Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)