Log In

Part Description

LP203226-8   Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

LOINC Names Get Info

Fully-Specified Name
Mucopolysaccharidosis type I newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar:
Long Common Name
Mucopolysaccharidosis type I newborn screening comment-discussion
Short Name
MPS I NBS comment
Display Name
Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot

Part Model Get Info

  • Component
    Mucopolysaccharidosis type I newborn screening comment-discussion
    LP203233-4
    • Analyte
      Mucopolysaccharidosis type I newborn screening comment-discussion
      LP203233-4
      • Component Numerator
        Mucopolysaccharidosis type I newborn screening comment-discussion
        LP203233-4
        • Component Numerator Core
          Mucopolysaccharidosis type I
          LP203226-8
        • Component Numerator Core Suffix
          newborn screening comment-discussion
          LP157894-9
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Txt
    LP6885-0
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nar
    LP7749-7
  • Method
    NULL
     

Basic Attributes

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

Member of these Panels

LOINCLong Common Name
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Mukopolysacharidóza typu I novorozenecký screening komentář-diskuse:Text:Časový bod:Suchá krevní kapka (DBS):Narativní:
el-GRGreek (Greece)Βλεννοπολυσακχαρίδωση τύπου I εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Bld.dot CHEM I Nar Pt Txt Type Αίμα Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση Σχόλιο
es-ESSpanish (Spain)Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MXSpanish (Mexico)Mucopolisacaridosis tipo I cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FRFrench (France)Mucopolysaccharidose type 1 déficit dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-ITItalian (Italy)Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NLDutch (Netherlands)mucopolysaccharidose type I screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: MPS soort
tr-TRTurkish (Turkey)Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CNChinese (China)黏多糖贮积症 I 型 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt I 型 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖病 I 型;粘多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖贮积症;黏多糖病;粘多糖病 血;血液 解说 解释 评定 评注 评论 评语 说明

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79565-8