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Part Description

LP200103-2   Hawkinsin
Hawkinsin ((2-L-cystein-S-yl-1,4-dihydroxycyclohex-5-en-1-yl)-acetic acid) is an intermediate metabolite in the 4-hydroxyphenylpyruvate hydroxylase reaction, and is elevated in the urine of patients with an autosomal dominant inborn error of metabolism called hawkinsinuria. Hawkinsinuria is caused by heterozygous mutation in the HPD gene, which is on chromosome 12q24, and encodes 4-hydroxyphenylpyruvic acid dioxygenase. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Some patients have been successfully treated with a special diets, such as tyrosine and phenylalanine restriction or general protein restriction, which resulted in metabolic correction and rapid catch-up growth.[OMIM: 140350] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Hawkinsin:SCnc:Pt:Ser/Plas:Qn:
Long Common Name
Hawkinsin [Moles/volume] in Serum or Plasma
Short Name
Hawkinsin SerPl-sCnc
Display Name
Hawkinsin [Moles/Vol]
Consumer Name Alpha Get Info
Hawkinsin, Blood

Part Model Get Info

  • Component
    Hawkinsin
    LP200103-2
    • Analyte
      Hawkinsin
      LP200103-2
      • Component Numerator
        Hawkinsin
        LP200103-2
        • Component Numerator Core
          Hawkinsin
          LP200103-2
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    SCnc
    LP6860-3
  • Time
    Pt
    LP6960-1
  • System
    Ser/Plas
    LP7576-4
    • System Core
      Ser/Plas
      LP7576-4
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Hawkinsin:Látková koncentrace:Časový bod:Sérum/plazma:Kvantitativní:
el-GRGreek (Greece)Χωκινσίνη:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: CHEM Pt Qn SCnc Ορός Ορός/Πλάσμα Πλάσμα Χωκινσίνη
es-ESSpanish (Spain)Hawkinsin:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Hawkinsin:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-FRFrench (France)Hawkinsine:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)Hawkinsin:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma
tr-TRTurkish (Turkey)Hawkinsin:SubKons:Zmlı:Ser/Plaz:Kant:
zh-CNChinese (China)霍金素:物质的量浓度:时间点:血清/血浆:定量型:
Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血清或血浆 酪氨酸的代谢产物;罕见类型的酪氨酸血症者的尿中排出物;4-羟苯丙酮酸双加氧酶反应的中间产物与谷胱甘肽结合产物

Example Units

UnitSource
umol/LExample UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79125-1