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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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9.

OMIM.ORG article

Omim 222700 external link
10.

Orphanet article

Orphanet ID 470 external link
11.

Wikipedia article

Wikipedia EN (Lysinuric_protein_intolerance) external link
Update: Aug. 14, 2020
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