AutoDELFIA tests: Congenital Hypothyroidism, Galactosemia, Biotinidase
deficiency, Congenital Adrenal Hyperplasia.
activity in children treated with valproic acid and carbamazepine.
Disorders included in provincial screening programs (41) congenital Duchenne biotinidase
adrenal muscular hypothy deficiency hyperplasma dystrophy roidism galactosemia PKU AB X X X BC (42) X X X MB X X X (43) X X X NB (44) X X NF X X NS (45) X X ON (46) X X ON (46) X X PEI X X SK X X MACD tyrosinemia Deficiency AB BC (42) MB NB (44) NF X NS (45) X ON (46) ON (46) PEI SK
Other diseases, such as CAH, CF, GALT, SCD, and biotinidase
deficiency (BIO), have also reached some degree of consensus (4).
Novel mutations cause biotinidase
deficiency in Turkish children.
The commonest diagnoses were methyl malonic acIdaemia (n=2; 20%), non-ketotic hyperglycinaemia (n=7; 10%), fructose 1,6 diphosphatase deficiency (n=1; 10%), and biotinidase
deficiency (n=1; 10%).
Four disorders accounted for an estimated 50 or more cases (methylmalonic acidemia attributed to mutase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine uptake defect, and biotinidase
Katz, whose commentary is slated to appear in the September issue of Pediatrics, noted that the March of Dimes already advocates a specific panel of tests for all infants (phenylketonuria [PKU], congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase
deficiency, maple syrup urine disease, galactosemia, homocystinuria, and sickle cell anemia), and suggested that the task force should have done likewise.
Under the expanded program, which will begin in late 2007, three additional tests will be sourced from PerkinElmer including: congenital adrenal hyperplasia (CAH), a hormonal disorder affecting the adrenal glands; Galactosemia, which if left untreated, can cause poor development or death; and biotinidase
deficiency (BIOT), which can lead to seizures, developmental delay, eczema and hearing loss.
when screening for biotinidase
deficiency, glucose-6-phosphate dehydrogenase deficiency, and severe combined immunodeficiency.
Metabolic screening tests (tandem ms, urinary organic acids by thin layer chromatography, biotinidase
screening test), biochemical tests (thyroid hormones, serum ammonia and lactate levels) were performed.
deficiency (BD) is a biotin responsive, autosomal recessive inherited neurocutaneous, treatable metabolic disorder.