Biotinidase deficiency: Difference between revisions
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'''Biotinidase deficiency''' is an [[inherited disorder]] in which the body is not able to process the [[vitamin]] [[biotin]] properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aids in the [[metabolism]] of [[fat]]s, [[carbohydrate]]s and [[protein]]s. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Doses of synthetic Biotin can alleviate and sometimes totally arrest such symptoms. | '''Biotinidase deficiency''' is an [[inherited disorder]] in which the body is not able to process the [[vitamin]] [[biotin]] properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aids in the [[metabolism]] of [[fat]]s, [[carbohydrate]]s and [[protein]]s. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Doses of synthetic Biotin can alleviate and sometimes totally arrest such symptoms. | ||
== | ==Historical Perspective== | ||
==Classification== | |||
==Pathophysiology== | |||
==Genetics== | ==Causes== | ||
===Genetics=== | |||
[[Mutation]]s 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 made at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.) Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). When biotin is lacking, specific enzymes called carboxylases cannot process proteins, fats, or carbohydrates. Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin. | [[Mutation]]s 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 made at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.) Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). When biotin is lacking, specific enzymes called carboxylases cannot process proteins, fats, or carbohydrates. Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin. | ||
This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. | This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. | ||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 percent of normal enzyme activity) biotinidase deficiency. | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==See also== | ==See also== | ||
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==References== | ==References== | ||
{{Reflist|2}} | |||
* {{cite journal | author=Dobrowolski SF, Angeletti J, Banas RA, Naylor EW | title=Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency | journal=Mol Genet Metab | year=2003 | pages=100-7 | volume=78 | issue=2 }} PMID 12618081 | * {{cite journal | author=Dobrowolski SF, Angeletti J, Banas RA, Naylor EW | title=Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency | journal=Mol Genet Metab | year=2003 | pages=100-7 | volume=78 | issue=2 }} PMID 12618081 | ||
* {{cite journal | author=McMahon RJ | title=Biotin in metabolism and molecular biology | journal=Annu Rev Nutr | year=2002 | pages=221-39 | volume=22 }} PMID 12055344 | * {{cite journal | author=McMahon RJ | title=Biotin in metabolism and molecular biology | journal=Annu Rev Nutr | year=2002 | pages=221-39 | volume=22 }} PMID 12055344 | ||
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[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category: | [[Category:Hematology]] | ||
Latest revision as of 19:02, 20 June 2016
| Biotinidase deficiency | |
| Biotin | |
| ICD-9 | 277.6 |
| OMIM | 253260 |
| DiseasesDB | 29822 |
| eMedicine | ped/239 |
| MeSH | D028921 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aids in the metabolism of fats, carbohydrates and proteins. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Doses of synthetic Biotin can alleviate and sometimes totally arrest such symptoms.
Historical Perspective
Classification
Pathophysiology
Causes
Genetics
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 made at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.) Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body. Another function of the biotinidase enzyme is to recycle biotin from enzymes that are important in metabolism (processing of substances in cells). When biotin is lacking, specific enzymes called carboxylases cannot process proteins, fats, or carbohydrates. Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Differentiating Biotinidase deficiency from Other Diseases
Epidemiology and Demographics
Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 percent of normal enzyme activity) biotinidase deficiency.
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
See also
References
- Dobrowolski SF, Angeletti J, Banas RA, Naylor EW (2003). "Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency". Mol Genet Metab. 78 (2): 100–7. PMID 12618081
- McMahon RJ (2002). "Biotin in metabolism and molecular biology". Annu Rev Nutr. 22: 221–39. PMID 12055344
- Neto EC, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C, Brites A, Giugliani R, Jensen KP, Wolf B (2004). "Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations". Braz J Med Biol Res. 37 (3): 295–9. PMID 15060693
- Weber P, Scholl S, Baumgartner ER (2004). "Outcome in patients with profound biotinidase deficiency: relevance of newborn screening". Dev Med Child Neurol. 46 (7): 481–4. PMID 15230462
- Wolf B (2003). "Biotinidase Deficiency: New Directions and Practical Concerns". Curr Treat Options Neurol. 5 (4): 321–328. PMID 12791199
This article incorporates public domain material from the United States National Library of Medicine document "Genetics Home Reference".