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Elevated urine hydroxyphenyllactic acid level

MedGen UID:
1054289
•Concept ID:
CN378356
•
Finding
HPO: HP:6001004

Definition

The amount of 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  
  • CROGVElevated urine hydroxyphenyllactic acid level

Conditions with this feature

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).
See: Condition Record
Hawkinsinuria

Professional guidelines

PubMed

Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria.
Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T
J Chromatogr B Biomed Sci Appl 1999 Sep 24;732(2):469-77. doi: 10.1016/s0378-4347(99)00320-5. PMID: 10517369

Recent clinical studies

Etiology

Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.
Liu H, Li C, Li X, Yu C, He X, Miao J
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):506-513. doi: 10.3724/zdxbyxb-2021-0264. PMID: 34704407Free PMC Article
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

Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.
Liu H, Li C, Li X, Yu C, He X, Miao J
Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug 25;50(4):506-513. doi: 10.3724/zdxbyxb-2021-0264. PMID: 34704407Free PMC Article
Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria.
Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T
J Chromatogr B Biomed Sci Appl 1999 Sep 24;732(2):469-77. doi: 10.1016/s0378-4347(99)00320-5. PMID: 10517369
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

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