Gaucher disease is a rare autosomal recessive disorder of lipid metabolism, characterized by a build of glucocerebroside in the body cells. Characteristic signs and symptoms of the disease include yellowish pigmentation of the skin, hepatosplenomegaly, complicated by splenic infarctions, skeletal abnormalities, including osteopenia, pathological fractures, bone infarctions, and corticomedullary osteonecrosis, pingueculae of the eyes, anemia, thrombocytopenia, and growth retardation. Type I Gaucher Disease does not involve any direct neurological features, and is therefore, known as the non-neuropathic form of the disorder.
The condition results from mutations in the GBA gene that codes for glucocerebrosidase, a lysosomal enzyme. This in turn leads to the accumulation of beta-glucocerebrosidase deposits in the the liver, spleen and bone marrow cells.
Kent et al. (1998) reported pathological fracture of the humerus of a three-and-a-half year-old boy already diagnosed with Gaucher's disease. The patient had three (two brothers and one sister) siblings who had died of the disease in their childhood. [Kent L, Kafil A, George C. Pathological fracture in Gaucher's disease. Oman Med J. 1998; 14(3):53-4.]
Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among the 82 patients, two children were diagnosed with Gaucher disease [CTGA Database Editor's note: Computed annual incidence rate is 1.6/100,000].
Al Talabani et al. (1998) observed one case of Gaucher disease (hydrops) in a consanguineous family from the United Arab Emirates in a study of major congenital malformations among 24,233 consecutive live and stillbirth at a major maternity hospital in Abu Dhabi. Recurrence of the disease was reported in the family.
The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for lipid disorders described at AlWasl Hospital in Dubai between 1997 and 2006. Only four cases of Gaucher disease were observed. The disease occurred in males and females. No further details could be obtained.
Al-Jasmi et al. (2013), in a study on the prevalence of lysosomal storage diseases (LSDs) in the UAE, identified five patients with Gaucher Disease in the UAE.