Clinical feature: 

Definition: Lysinuric protein intolerance is an autosomal recessive disease characterized by hyperamonemia after protein ingestion and hyperbasic aminoaciduria.

Epidemiology: The incidence in Finland is 1:60,000 but varies considerably within the country.

Literature: 

Norio R et al. (1971) Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
Norio R et al. (1971) Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.
Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology.
Palacín M et al. (2001) The molecular bases of cystinuria and lysinuric protein intolerance.
Palacín M et al. (2000) Heteromeric amino acid transporters explain inherited aminoacidurias.
Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.
Mannucci L et al. (2005) Increased NO production in lysinuric protein intolerance.
Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.