Sandhoff Disease

Alternative Names

  • GM2-Gangliosidosis, Type II
  • Hexosaminidases A and B Deficiency
  • Sandhoff Disease, Adult Type
  • Sandhoff Disease, Juvenile Type
  • Sandhoff Disease, Infantile Type

Associated Genes

Hexosaminidase B
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

268800

Mode of Inheritance

Autosomal recessive with multiple alleles and compounds

Gene Map Locus

5q13.3

Description

Sandhoff disease is a rare genetic disorder of lysosomal storage, similar to Tay Sachs Disease. The disease is characterized by progressive deterioration of the central nervous system.

Sandhoff disease is caused due to mutations in the Hexosaminidase B (HEXB) gene. The HEXB gene codes for the beta chain of both Hexosaminidase A and Hexosaminidase B proteins. These proteins are responsible for the degradation of GM2 gangliosides in the brain and other tissues. Mutations in the gene prevent the breakdown of these GM2 gamgliosides, resulting in their build-up in the CNS. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
268800.1Saudi ArabiaUnknownNM_000521.3:c.1597C>THomozygousAutosomal, RecessiveKaya et al. 2011
268800.2Saudi ArabiaUnknownNM_000521.3:c.1169+3_1169+10delAAGTTGTTHomozygousAutosomal, RecessiveKaya et al. 2011
268800.3Saudi ArabiaUnknownNM_000521.3:c.1169+3_1169+10delAAGTTGTTHomozygousAutosomal, RecessiveKaya et al. 2011
268800.4Saudi ArabiaUnknownNM_000521.3:c.94C>TAutosomal, RecessiveKaya et al. 2011
268800.5United Arab EmiratesUnknownNM_000521.4:c.272G>CHeterozygous, HomozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Low serum hexosamini...
268800.6United Arab EmiratesUnknown Developmental regression; Failure to th...NM_000521.4:c.826_829delHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016
268800.G.1LebanonUnknownNM_000521.3:c.884C>G, NM_000521.3:c.1507T>CHeterozygousAutosomal, RecessiveAl-Jasmi et al. 2013 6 compound heterozyg...

Other Reports

Lebanon

 Der Kaloustian et al. (1981) reviewed the charts of 7 patients clinically diagnosed with Tay Sachs disease in a Lebanese hospital, in a 20-year period. HEXB enzyme analysis revealed that all patients had Sandhoff disease, and not Tay Sachs disease.

Oman

In a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000, Joshi et al. (2002) found five children diagnosed diagnosed with Sandhoff disease.

Venugopalan and Joshi (2002) reported on an 18-month old boy with infantile Sandhoff disease associated with cardiac involvement. He was born to consanguineous healthy parents.

Nair et al. (2003) described an extreme preterm baby girl with bilateral syndactyly who was then diagnosed with Sandhoff disease.

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1995 and 2004. Only one case of Sandhoff disease was observed in a 15-months-old girl from Oman. 

Qatar

Abdul-Wahab et al. (2002) described a premature infant born to healthy consanguineous parents, who was diagnosed with Sandhoff disease. 

Saudi Arabia

In  large retrospective analysis of children bprn with IEMs in Saudi Arabia, Moammar et al. (2010) identified 9 cases from 7 families with Sandhoff disease, with an estimated incidence of 5 per 100,000 live births.

United Arab Emirates

Al-Jasmi et al. (2013) studied the prevalence of lysosomal storage diseases (LSDs) in the UAE and reported their mutation spectrum. Four Emirati patients with Sandhoff disease were identified in this study, giving a relatively high birth prevalence of 1.21 per 100,000 for Emiratis. 

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