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Carnosinase deficiency

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

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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PMID (PMCID)
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.
	Plasma carnosinase deficiency was discovered in a 12-yr-old male with profound mental retardation, severe athetoid spastic quadriparesis, optic atrophy, sensory peripheral neuropathy, and suprabulbar signs.