Specialised biochemical genetic departments offer clinical and
laboratory services for a range of inherited metabolic disorders.
Routine neonatal screening for conditions such as
phenylketonuria (PKU) and congenital hypothyroidism are
undertaken on neonatal blood samples taken from all newborn
babies. Investigations performed on children presenting with
other metabolic disorders are carried out on a range of samples
including urine, blood, CSF, cultured fibroblasts and muscle
biopsies. Tests are undertaken to identify conditions such as
disorders of amino acids, organic acids and
mucopolysaccharides, lysosomal and lipid storage diseases, and
peroxisomal and mitochondrial disorders. Tests for other
metabolites or enzymes are performed when a diagnosis of a
specific disorder is being considered. In the UK, the Society for
the Study of Inborn Errors of Metabolism publishes
information on centres providing biochemical genetic tests.
Subscribe to:
Post Comments (Atom)
No comments:
Post a Comment