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Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency .
Biotinidase (EC 3.5.1.12, amidohydrolase biotinidase, BTD), also known as biotinase, [1] is an enzyme that in humans is encoded by the BTD gene. The enzyme breaks down biotin amides, releasing free biotin and the amine.
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
The Newborn Screening Saves Lives Reauthorization Act of 2014 would amend the Public Health Service Act to extend and revise a grant program for screening, counseling, and other services related to heritable disorders. The bill would expand eligible grantees to include a health professional organization and an early childhood health system.
Genetic mutation: Mikati et al. (2006) reported a case of partial biotinidase deficiency (plasma biotinidase level of 1.3 nm/min/mL) in a 7-month-old boy. The boy presented with perinatal distress followed by developmental delay, hypotonia , seizures, and infantile spasms without alopecia or dermatitis .
Gas chromatography–mass spectrometry-based technology with an integrated analytics system has now made it possible to test a newborn for over 100 mm genetic metabolic disorders. Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive ...
Forms include: [citation needed] Holocarboxylase synthetase deficiency - neonatal;; Biotinidase deficiency - late onset;; If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in ...