. In one experiment on two children with carnosinemia, all sources of dietary protein with an ala...
. In one experiment on two children with carnosinemia, all sources of dietary protein with an alanine next to a histidine were eliminated from the diet. The children still excreted carnosine in the urine. What is an explanation for this finding?
Homework Answers
Carnosinemia or aminoacyl-histidine dipeptidase deficiency, is a atypical autosomal recessive metabolic disorder caused by a insufficiency of carnosinase, a dipeptidase. Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system.
Extreme urinary excretion of carnosine even on a low protein diet (lack of alanine and histidine) has also been reported in patients with cerebromacular degeneration. Carnosinuria is actually inherited as a dominant trait autonomously of cerebromacular degeneration which is inherited as recessive trait. Literature review revealed that it is likely that carnosinuria and cerebromacular degeneration are manifestations of the same gene.
Therefore, these two children still excreted carnosine in the urine.
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