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Biotinidase deficiency has an autosomal recessive pattern of inheritance. Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations that cause the enzyme to be nonfunctional or to be produced at extremely low levels have been identified.
"Skin manifestations of biotin deficiency". Semin Dermatol. 10 (4): 296– 302. PMID 1764357. Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S (December 2003). "Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies ...
This is a list of disorders included in newborn screening programs around the world, ... Biotinidase deficiency (BIOT) > 1 in 75,000; Congenital adrenal hyperplasia ...
Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. [citation needed] Gas chromatography–mass spectrometry (GCMS) machine. Common screening tests used in the last sixty years: [citation needed]
Congenital errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids. [1] This means that the body has trouble breaking down and building some amino acids, the building blocks of protein in the body. [2]
Two other possible culprits that are usually diagnosed in newborns, according to Dr. Castilla, include biotinidase deficiency (BTD) and phenylketonuria (PKU). The former makes it difficult for the ...
Biotinidase deficiency is an inherited disorder that affects how the body is able to process biotin. People will be diagnosed for biotinidase deficiency before they start showing symptoms. The symptoms presented include developmental delay, hair loss, seizures, and skin rash. [28]
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Biotinidase Identifiers Symbol BTD NCBI gene 686 HGNC 1122 OMIM 609019 RefSeq NM_000060 UniProt P43251 Other data EC number 3.5.1.12 Locus Chr. 3 p25 Search for Structures Swiss-model Domains InterPro Biotinidase (EC 3.5.1.12, amidohydrolase ...