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References in periodicals archive ?
But it has now been revealed Taylor has Biotinidase deficiency, a genetic condition which mimics the affects of mitochondrial disease.
High doses of biotin (5-30 mg per day) may also be indicated for rare metabolic disorders such as biotinidase deficiency and propionic acidemia.
In our country, phenylketonuria, congenital hypothyroidism, biotinidase deficiency, and cystic fibrosis are included in the neonatal screening program, but galactosemia has not yet been included in this scope.
1 In addition to a variety of clinical side- effects, Iso may cause dyslipidaemia, increased liver enzymes, and reduction of biotinidase activity.
Newborns are screened for diseases including Glucose 6 Phosphate Dehydrogenase (G6PH), cystic fibrosis, biotinidase, thalassaemia, sickle cell disease, congenital adrenal hyperplasia, congenital hypothyroidism and phenylketonuria.
Mimickers of zinc deficiency include biotinidase deficiency, methylmalonic acidemia, propionic acidemia, maple syrup urine disease, citrullinemia, and ornithine transcarbamylase deficiency.
Bushra Afroze Clinical Geneticist from Aga Khan University was the next speaker and she talked about Biotinidase deficiency- Clinical Presentation, Diagnosis and Treatment.
VACTERL association: a new case with biotinidase deficiency and annular pancreas.
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.