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DOID DOID:0060439
Name lysinuric protein intolerance
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.
http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, http://www.ncbi.nlm.nih.gov/books/NBK1361/, https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance, https://www.ncbi.nlm.nih.gov/pubmed/1155480
Xrefs

GARD:3335

MESH:C562687

NCI:C121563

OMIM:222700

ORDO:470

SNOMEDCT_US_2018_03_01:13138006

UMLS_CUI:C0268647

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

dibasic amino aciduria II [EXACT]

hyperdibasic aminoaciduria [EXACT]

LPI [EXACT]

Relationships

is_a amino acid metabolic disorder

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