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4-Hydroxyphenylpyruvic aciduria

MedGen UID:
376416
Concept ID:
C1848678
Finding
Synonym: 4-hydroxyphenylpyruvic aciduria
 
HPO: HP:0003161

Definition

Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine. [from HPO]

Term Hierarchy

Conditions with this feature

Tyrosinemia type II
MedGen UID:
75687
Concept ID:
C0268487
Disease or Syndrome
Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).
Tyrosinemia type III
MedGen UID:
78694
Concept ID:
C0268623
Disease or Syndrome
Tyrosinemia type III (TYRSN3) is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000).
Hawkinsinuria
MedGen UID:
419319
Concept ID:
C2931042
Disease or Syndrome
Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000).
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
MedGen UID:
934657
Concept ID:
C4310690
Disease or Syndrome
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.

Recent clinical studies

Therapy

Matsuo M, Saiki K, Tanabe J, Nakamura H, Matsuo T
J Inherit Metab Dis 1987;10(3):276. doi: 10.1007/BF01800080. PMID: 3123792

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