Mucopolysaccharidosis, Type IIIc

Alternative Names

  • MPS3C
  • MPS IIIC
  • Sanfilippo Syndrome C
  • Acetyl-CoA:Alpha-Glucosaminide N-Acetyltransferase Deficienc
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

252930

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p11.2-p11.1

Description

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
252930.1United Arab EmiratesMaleNoYes Intellectual disability; Attention defic...NM_152419.2:c.1600A>GHomozygousAutosomal, RecessiveSaleh et al. 2021
252930.2United Arab EmiratesFemaleYesYes Attention deficit hyperactivity disorder...NM_152419.2:c.1348delHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected sister
252930.3United Arab EmiratesFemaleYesYes Delayed speech and language development;...NM_152419.2:c.1327G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Paternal cousin with...
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