Incidence and features of galactosaemia in Saudi Arabs

Abstract

Over a 12-year period (1983 to 1994), 11 cases of classical galactosaemia were identified in the Saudi Aramco Medical Services Organization (SAMSO). This yields an incidence of 12 cases per 100,000 live births in the Easter Province of Saudi Arabia. A higher proportion of infants presented with infections compared to reports in the literature. Screening for galactosaemia is highly recommended in this high-risk population.

Prevalence of Newborn Blood Disorders at Maternity and Children’s Hospital, Ksa (1437 H)

“…(13) A review on the current experiences with newborn screening in the Middle East and North Africa region. The population in the region is about 400 million, with high birth rate and an estimated 10 million newborns per year.…”

“…Currently, there are only four countries that are executing national newborn screening but they vary from one disease to 23 and coverage is not complete. The region needs to take big steps towards developing national strategies for prevention and should learn from experiences of regional and international screening programmes (13). Over a 12-year period (1983 to 1994), 11 cases of classical galactosaemia were identified in the Saudi Aramco Medical Services Organization (SAMSO).…”

“…Moreover, in a study conducted in King Faisal Specialist Hospital and Research Center (the largest referral hospital for congenital and metabolic diseases in the country), Al-Odaib ET al.reported the major Inborn Error of metabolism seen at a pediatrics clinic from (1998)(1999)(2000)(2001)(2002). A total of 96,015 newborns were tested from January 1990 -December 2007, found (26) cases of primary congenital hypothyroidism (CH); (6) cases of transient hypothyroidism; (13) cases of congenital hypothyroidism. …”

Pattern of liver diseases in Oman

“…Hereditary diseases, PFIC (24) and ARPCDK (17), comprised 52% of all cases of chronic liver disease investigated. Inherited liver diseases with an autosomal recessive pattern comprised 66% of all referrals to the unit.…”

Capillary electrophoresis and mass spectrometry for screening of metabolic disorders in newborns

“…IEM are relatively common phenomenon in some African countries, such as Saudi Arabia and in the areas of Near East [7,8], probably due to considerable kinship. In some of the isolated areas, it is estimated, that the IEM comprise 20% of all newborn diseases and the incidence of IEM is approximately 1 in 5000 of the newborns [9,10].…”