[Metabolic diseases: a challenge for pediatrics].
During the past ten years we have identified in five girls a previously unreported hereditary metabolic disease with severe neurologic involvement. A common defect in the carbohydrate structure of serum glycoproteins could be demonstrated. This disease illustrates the great challenge that metabolic diseases are for pediatrics. Their number is very large and increases steadily; most of them can not yet be treated efficiently, and nearly all these disorders are hereditary. These and other features make a national and international approach necessary.
Jaeken
J
J
U.Z. Gasthuisberg, Kindergeneeskunde, Leuven.
D001796:Blood Protein Disorders / Q000097:blood*; D006023:Glycoproteins / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D013577:Syndrome
D006023:Glycoproteins
Stofwisselingsziekten: een uitdaging voor de kindergeneeskunde.