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Carnosinase deficiency

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

Psychomotor retardation

Total: 1

(per page)

PMID (PMCID)
9029640	FEMALE
	A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.
	Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR. Pediatr Res. 1997;41(2):210-3.
	Several reports of serum carnosinase deficiency describe a variable phenotype, which ranges from normal to severe psychomotor retardation, hypotonia, and myoclonic seizures in the first year of life.