79565-8
Mucopolysaccharidosis type I newborn screening comment-discussion
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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
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- 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
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I screening van pasgeborene commentaar-discussie: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型 新生儿筛查注释-讨论: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |
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- CodeSystem lookup
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