Amish, Mennonite, and Hutterite
Genetic Disorder Database

Biotinidase deficiency

OMIM #: #253260  (Click to access OMIM database)
Disorder: Biotinidase deficiency 
Also known as: Multiple carboxylase deficiency, late-onset
Multiple carboxylase deficiency, juvenile-onset
BTD deficiency 
Phenotype: sparse hair, alopecia, dermatitis, skin rash, seizures, hypotonia, developmental regression, ataxia, developmental delay/mental retardation, metabolic acidosis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite

Testing is available at LHSC.


1   Old Order Mennonite  
Gene: BTD
Base Change: T>C, at nucleotide 1459
Amino Acid Change: trp 487 --> arg
2   Old Colony Mennonite  
Gene: BTD
Base Change: C>T, at nucleotide 380
Amino Acid Change: pro 127 --> leu
3   Old Order Mennonite, Unknown / Other Mennonite  
Gene: BTD
Base Change: A>G, at nucleotide 629
Amino Acid Change: tyr 210 --> cys
4   Amish, Old Order Mennonite, Old Colony Mennonite, Unknown / Other Mennonite  
Gene: BTD
Base Change: G>C, at nucleotide 1330
Amino Acid Change: asp 444 --> his
5   Amish, Old Colony Mennonite  
Gene: BTD
Base Change: A>C, at nucleotide 1368
Amino Acid Change: gln 456 --> his
Last updated: 2018-04-19 

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B. (1997) Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res 42(6):840-8.
PubMed ID: 9396567 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 
Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B. (1998) Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet 102:571–575.
PubMed ID: 9654207