Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
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