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Genetic disorder
eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs. Without this enzyme, a
Hurler_syndrome
Mammalian protein found in ''Homo sapiens''
Iduronidase (EC 3.2.1.76, L-iduronidase, α-L-iduronidase, laronidase), sold as Aldurazyme, is an enzyme with the systematic name glycosaminoglycan α-L-iduronohydrolase
Iduronidase
Medical condition
Scheie syndrome is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (GAGs) in the body. It is
Scheie_syndrome
Medical condition
glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without
Mucopolysaccharidosis_type_I
Medical condition
enzyme alpha-L-iduronidase. Children born to an MPS I parent carry the defective gene. MPS I H (also called Hurler syndrome or α-L-iduronidase deficiency)
Mucopolysaccharidosis
American geneticist and philosopher
D., Neufeld, E.F.: Carbohydrate structures of recombinant human a-L-iduronidase secreted by Chinese hamster ovary cells. The Journal of Biological Chemistry
Emil_Kakkis
Autosomal recessive genetic condition
to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase.[citation needed] All forms of mucopolysaccharidosis type I (MPS I) are
Hurler–Scheie_syndrome
disease type I (or Hurler Syndrome), caused by absence of the enzyme α-l-iduronidase (IDUA) leading to accumulation of glycosaminoglycans (GAG) and resulting
Nonsense_suppressor
American biotechnology company
Maroteaux–Lamy syndrome (also called mucopolysaccharidosis type VI) Iduronidase (branded as Aldurazyme), a recombinant protein therapeutic for mucopolysaccharidosis
BioMarin_Pharmaceutical
Protein-coding gene in the species Homo sapiens
(November 1992). "PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene". Human Genetics. 90 (3): 327. doi:10.1007/bf00220095. PMID 1362562
KCNA4
Family of glycoside hydrolases
CAZY GH_39 comprises enzymes with several known activities; alpha-L-iduronidase (EC 3.2.1.76); beta-xylosidase (EC 3.2.1.37). The most highly conserved
Glycoside_hydrolase_family_39
Protein-coding gene in the species Homo sapiens
Hopwood JJ, Morris CP (1992). "Structure and sequence of the human alpha-L-iduronidase gene". Genomics. 13 (4): 1311–3. doi:10.1016/0888-7543(92)90053-U. PMID 1505961
Interleukin 5 receptor alpha subunit
Interleukin_5_receptor_alpha_subunit
Gene editing method
therapeutic benefit. For example, in human cells with defective α-L-iduronidase (IDUA) expression in cells from patients with IDUA-defective Hurler syndrome
LEAPER_gene_editing
collagen disease Alpha-ketoglutarate dehydrogenase deficiency Alpha-L-iduronidase deficiency Alpha-mannosidosis Alpha-sarcoglycanopathy Alpha-thalassemia
List_of_diseases_(A)
(MPS I H, α-L-iduronidase deficiency) Scheie syndrome (MPS I S) Hurler–Scheie syndrome (MPS I H-S) Hunter syndrome (MPS II, iduronidase sulfate deficiency)
List of conditions treated with hematopoietic stem cell transplantation
List_of_conditions_treated_with_hematopoietic_stem_cell_transplantation
4-β-glucosidase EC 3.2.1.75: glucan endo-1,6-β-glucosidase EC 3.2.1.76: L-iduronidase EC 3.2.1.77: mannan 1,2-(1,3)-α-mannosidase EC 3.2.1.78: mannan endo-1
List_of_EC_numbers_(EC_3)
sold as Neulasta alpha-galactosidase A: Fabrazyme by Genzyme alpha-L-iduronidase: (rhIDU; laronidase) Aldurazyme by BioMarin Pharmaceutical and Genzyme
List_of_recombinant_proteins
811.277.450.529 – hyaluronoglucosaminidase MeSH D08.811.277.450.560 – iduronidase MeSH D08.811.277.450.585 – isoamylase MeSH D08.811.277.450.625 – mannosidases
List_of_MeSH_codes_(D08)
IDURONIDASE
IDURONIDASE
IDURONIDASE
IDURONIDASE
Biblical
witnessing; robbing; passing over
Girl/Female
Gaelic
From the glen. Valley.
Girl/Female
American, Australian, British, Chinese, Czechoslovakian, Danish, Dutch, English, French, German, Netherlands, Norse, Norwegian, Scandinavian, Swiss, Teutonic
Fair; Meadow; Ing is Beautiful; Hero's Daughter
Boy/Male
Indian, Kannada, Tamil
God Murugan
Girl/Female
Muslim
Prophetic
Boy/Male
English
Raven.
Girl/Female
Gujarati, Hindu, Indian, Punjabi, Sikh, Tamil
Guru's Voice; Speech; Goddess Saraswati; The Sweet Spoken One
Boy/Male
Hindu, Indian
One who is Begotten through a Boon
Biblical
thunder, or in vain
Male
Russian
(Викентий) Russian form of Latin Vincentius, VIKENTIY means "conquering."
IDURONIDASE
IDURONIDASE
IDURONIDASE
IDURONIDASE
IDURONIDASE