![]() The estimated incidence of this condition is 7 in 100,000 live births. Only one case of MUSD was confirmed enzymatically. Among them, twelve cases from seven families were found to have MSUD. Aminoacidopathies were diagnosed in 38 out of 248 cases (16%). During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Moammar et al, 2010, reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. Like the first patient, he too went into cardiopulmonary arrest and died. The second case was that of a six-month old infant who was evaluated for a skin rash. Despite treatment, the patient died of a cardiopulmonary arrest. The first case was that of an 8-day old female, born to consanguineous parents, who presented with poor feeding, vomiting and convulsions. During a period of three years nearly 14 cases of MSUD were observed suggesting an alarmingly high rate of incidence of the disease in the Kingdom as compared to the West.īrismar et al, 1990, reviewed the cases of 10 infants with classical maple syrup urine disease (MSUD) and two with variant MSUD using a total of 26 CT scans and 13 MR examinations of the brain during different stages of their disease.Īl Awamy and Al-Madan, 2002, described the first cases of an acrodermatitis enteropathica-like rash in isoleucin deficient patients with maple syrup urine disease in the country. ![]() Subramanyam et al, 1990, measured plasma amino acid concentrations in infants with maple syrup urine disease using reversed phase high performance liquid chromatography (HPLC). In 2006, Al-Arrayed indicated that MSUD occurs in Bahrain at an approximate incidence of 2/10,000 births. ![]() Maple syrup urine disease was commonly found among Bahraini infants. Preliminary results showed ten abnormal cases out of 1000 newborns (incidence 1%) although it was expected to find 100 affected births with metabolic diseases in every 1000 newborns annually. ![]() The authors opined that the late introduction of MSUD formula, lack of facilities for monitoring the amino acid levels, and the presence of skin infection contributed to their fatal outcome.Īl Arrayed et al, 1999, applied newborn screening to 1000 Bahraini newborns taken at random during two years. Maple syrup urine disease is an autosomal recessive genetic disorder that results from an inability to catabolize the branched-chain amino acids leucine. Mohammad and Ebrahim, 1985, described the first diagnosed cases of MSUD from Bahrain: two infants, born to consanguineous healthy Bahraini parents, both of whom succumbed to the disease. ![]()
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