|(G;G)||0||common in clinvar|
|Disease Association||Defects in BTD are the cause of biotinidase deficiency (BTD deficiency) (MIM:253260); also called late onset multiple carboxylase deficiency. BTD deficiency is a disease characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. Profound BTD deficiency has a 10% or less mean normal serum activity. Partial BTD deficiency has a 10%-30% of mean normal serum activity. Children with partial BTD deficiency and who are not treated with biotin do not usually exhibit symptoms unless they are stressed (prolonged infection...). Partial BTD deficiency usually occurs when an individual has one allele that results in nearly total loss of activity in combination with an allele having the ""D424H"" mutation.|
|Disease||Biotinidase deficiency not provided|
|CLNDBN||Biotinidase deficiency not provided|
|CLNSRC||HGMD OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000021936.2, RCV000031859.3, RCV000078073.6,|
[PMID 18704161] Genetic variation in an individual human exome.
[PMID 7509806] Human serum biotinidase. cDNA cloning, sequence, and characterization.
[PMID 9232193] Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
[PMID 9375914] Profound biotinidase deficiency in two asymptomatic adults.
[PMID 10206677] Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
[PMID 10400129] Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.