OBO ID: DOID:0060439 |
Term Name: | lysinuric protein intolerance | Search Ontology: | |
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Definition: | An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (4) | ||
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Ontology: | Human Disease ( DOID:0060439 ) |
OTHER lysinuric protein intolerance PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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slc7a7t30713/t30713 | standard conditions | Rossi et al., 2015 |
WT + MO1-slc7a7 | standard conditions | Rossi et al., 2015 |
PHENOTYPE
No data available
CITATIONS (1)
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