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Elevated urinary gamma-glutamylphenylalanine level

MedGen UID:
1053903
•Concept ID:
CN377092
•
Finding
HPO: HP:6000281

Definition

The amount of gamma-glutamylphenylalanine level in the urine, when normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary gamma-glutamylphenylalanine level

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
•Concept ID:
C0031485
•
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.
See: Condition Record
Phenylketonuria

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