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Inherited Metabolic Disorders Affect 800 Annually in U.K.

Specialist laboratory services needed to detect the diverse range of conditions

TUESDAY, Nov. 14 (HealthDay News) -- In the United Kingdom, there are approximately 800 new cases a year of inherited metabolic disorders (IMD) -- substantially more than previously recorded -- covering a wide range of conditions, according to a study published in the November issue of the Archives of Disease in Childhood.

Simon Sanderson, M.R.C.P., M.F.P.H.M., of the University of Cambridge in the United Kingdom, and colleagues analyzed data from the ethnically diverse West Midlands region of England, which accounts for 5.2 million (approximately 10 percent) of the U.K. population and has an 11 percent black and ethnic-minority group population, versus 8 percent for the country as a whole.

The prevalence of IMD was 1 in 784 live births, based on 396 new cases, including mitochondrial disorders (1 in 4,929), lysosomal storage disorders (1 in 5,175), amino acid disorders excluding phenylketonuria (1 in 5,354) and organic acid disorders (1 in 7,962). One-third of cases were diagnosed by the time the patients were age 1 year and 72 percent were diagnosed by 15 years old.

"This study emphasizes the important role of the laboratory in obtaining such data. The analysis was made possible only because of accurate recording by a specialist laboratory, serving a defined population, by disorder and by geographical area, over a period of time," the authors write. "These data should prove helpful in the planning and provision of services for patients with IMDs, particularly in areas with a similar, ethnically diverse population."

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