Carnosinase deficiency

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

Carnosinuria

An increased concentration of carnosine in the urine.


Total: 2

                       


(per page)
PMID (PMCID)
3736769
 MALE Adult
Homocarnosinosis: influence of dietary restriction of histidine.
Lunde HA, Gjessing LR, Sjaastad O.
Neurochem Res. 1986;11(6):825-38.
Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF and the brain and, in addition, by carnosinuria and serum carnosinase deficiency.
7375183
 MALE Child
Carnosinase deficiency: a new variant with high residual activity.
Fleisher LD, Rassin DK, Wisniewski K, Salwen HR.
Pediatr Res. 1980;14(4 Pt 1):269-71.
Carnosinuria due to plasma carnosinase deficiency may be merely associated with the strinking neurologic findings that have been reported rather than causally related.