Are we ready to try to cure alkaptonuria?

Article Abstract:

Researchers have made advances recently that have led to greater understanding of the molecular and mutational basis of alkaptonuria, a well-known prototypic metabolic disorder that brings . Soon efforts will be made to treat the disorder using genetic engineering. Such efforts should be made with caution. It would not be an acceptable trade-off to get rid of some alkaptonuric problems in return for giving more serious metabolic problems, perhaps comeing from toxiciy of later tyrosine metabolites.

United States, Europe, Eastern Europe, Algeria, Turkey, Dominican Republic, Editorial, Arthritis

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Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

Article Abstract:

The mutation spectrum and exon-intron definition in Latin American and Spanish propionic acidemia patients has been researched for the human propionyl-CoA carboxylase beta subunit gene. A total of 29 unrelated patients, 8 from Latin America and 21 from Spain, have been studied. A total of 16 mutations have been found. Propionic acidemia is an inherited metabolic disease and can be life threatening for neonates. Mutations in the PCCA or PCCB gene can cause the disease.

Physiological aspects, Introns, Exon (Molecular genetics), Exons (Molecular genetics), Propionic acid

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Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37

Article Abstract:

The assignment of a locus for a new lethal neonatal metabolic syndrome made to 2q33-37 is discussed. The autosomal recessively inherited syndrome, for which 17 cases have been reported in 12 families in Finland, is characterized by fulminant lactic acidosis in the first day of life, intrauterine growth retardation, liver hemosiderosis, aminoaciduria and early death, and pathogenesis is not known.

Finland, Statistical Data Included

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