Biotinidase deficiency
| Disorder | |
|---|---|
| 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 |
| Clinical | |
| Phenotype: | sparse hair, alopecia, dermatitis, skin rash, seizures, hypotonia, ataxia, developmental delay, lethargy, cerebellar/cerebral atrophy, metabolic acidosis, organic acid disorder, respiratory issues, optic atrophy, hearing loss, hepatomegaly, splenomegaly, feeding difficulties |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 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 Old Colony Mennonite | |
| Gene: | BTD |
| Base Change: | A>C, at nucleotide 1368 |
| Amino Acid Change: | gln 456 --> his |
| Last updated: | 2022-11-02 |
| References |
|---|
| 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 |
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