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4-hydroxyphenyllactic aciduria

MedGen UID:
341282
•Concept ID:
C1848679
•
Finding
HPO: HP:6000275

Definition

Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV4-hydroxyphenyllactic aciduria

Professional guidelines

PubMed

A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis.
Shimizu N, Yamaguchi S, Orii T
Acta Paediatr Jpn 1994 Apr;36(2):139-45. doi: 10.1111/j.1442-200x.1994.tb03149.x. PMID: 8203256

Recent clinical studies

Etiology

Comparison of post-mortem urinary and vitreous humour organic acids.
Bennett MJ, Ragni MC, Hood I, Hale DE
Ann Clin Biochem 1992 Sep;29 ( Pt 5):541-5. doi: 10.1177/000456329202900509. PMID: 1444166

Diagnosis

A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis.
Shimizu N, Yamaguchi S, Orii T
Acta Paediatr Jpn 1994 Apr;36(2):139-45. doi: 10.1111/j.1442-200x.1994.tb03149.x. PMID: 8203256
Comparison of post-mortem urinary and vitreous humour organic acids.
Bennett MJ, Ragni MC, Hood I, Hale DE
Ann Clin Biochem 1992 Sep;29 ( Pt 5):541-5. doi: 10.1177/000456329202900509. PMID: 1444166

Therapy

Citrullinaemia: an infantile form with p-hydroxyphenylpyruvic and p-hydroxyphenyllactic acidurias.
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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