deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
Collins Discovery Encyclopedia, 1st edition © HarperCollins Publishers 2005
References in periodicals archive ?
But it has now been revealed Taylor has Biotinidase deficiency, a genetic condition which mimics the affects of mitochondrial disease.
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%).
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. Biotin is an essential vitamin, and if lacking, the baby will cause severe mental retardation.