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Carnosinase deficiency

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

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Total: 1

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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.