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The confirmed diagnoses were methyl malonic acldaemia (MMA) in 2 (20%), non-ketotic hyperglycinaemia (NKHG) in 1 (10%), fructose 1, 6 diphosphatase deficiency in 1 (10%), and biotinidase deficiency in 1 (10%) (Table-Ib).
It is important to note that in some disorders such as PA and biotinidase deficiency, all the above metabolic derangements may be present.
3) Subsequently, more diseases like congenital adrenal hyperplasia, galactosemia, biotinidase deficiency, G6PD deficiency, and cystic fibrosis were included in the screening program.
As an example, consider a baby born with a biotinidase deficiency.
There is more variability in screening for other conditions such as congenital adrenal hyperplasia and biotinidase deficiency.