hyperglycinuria

GPTKB entity

Statements (13)
Predicate Object
gptkbp:instanceOf rare disease
metabolic disorder
gptkbp:affects glycine metabolism
gptkbp:associatedWith benign clinical course
glycinemia
gptkbp:causedBy defect in renal tubular reabsorption of glycine
gptkbp:characterizedBy excess glycine in urine
gptkbp:diagnosedBy urine amino acid analysis
https://www.w3.org/2000/01/rdf-schema#label hyperglycinuria
gptkbp:ICD-10_code E72.2
gptkbp:symptom increased urinary glycine
gptkbp:bfsParent gptkb:SLC6A20
gptkbp:bfsLayer 7