Nature: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Nature: Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years
Biotinidase deficiency, if untreated, usually results in neurological and cutaneous symptoms. Biotin supplementation markedly improves and likely prevents symptoms in those treated early. All states ...
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years
Biotinidase (E.C. 3.5.1.12) is a 70–80 kD glycoprotein that is ubiquitously expressed and detectable in multiple sample types including serum, leukocytes, fibroblasts, and liver. 5 The enzyme ...
A metabolic disorder, biotinidase deficiency, is a condition in which the enzyme biotinidase becomes faulty. It is a neurocutaneous disorder and follows an autosomal recessive pattern of inheritance.
Biotinidase deficiency is an autosomal recessive metabolic disorder that impairs the body’s ability to recycle biotin, a vital co-enzyme for carboxylase reactions. Clinically, untreated deficiency ...