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.
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.
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.
Abdul-Wahab et al. (2002) described a premature infant born to healthy consanguineous parents, who was diagnosed with Sandhoff disease.
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.
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 an 11-months-old girl.
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.