Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lysinuric protein intolerance

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.[Error: Macro 'ref' doesn't exist]

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology.

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2.

Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

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3.

Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.

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4.

Palacín M et al. (2000) Heteromeric amino acid transporters explain inherited aminoacidurias.

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5.

Palacín M et al. (2001) The molecular bases of cystinuria and lysinuric protein intolerance.

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6.

Mannucci L et al. (2005) Increased NO production in lysinuric protein intolerance.

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7.

Norio R et al. (1971) Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.

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8.

Norio R et al. (1971) Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.

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Update: Sept. 26, 2018