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Disease Profile
Biotinidase deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
E53.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Biotin deficiency; BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;
Summary
Biotinidase deficiency is an
Symptoms
Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Generalized myoclonic seizure | 0002123 | |
| Metabolic ketoacidosis | 0005979 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| 30%-79% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Ataxia | 0001251 | |
| Desquamation of skin soon after birth | 0007549 | |
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Keratoconjunctivitis | 0001096 | |
| Optic atrophy | 0000648 | |
| Perioral eczema |
Eczema around the mouth
|
0011127 |
| 5%-29% of people have these symptoms | ||
| Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 |
| Apnea | 0002104 | |
| Coma | 0001259 | |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
| Hypertonia | 0001276 | |
| Hyperventilation |
Rapid breathing
|
0002883 |
| Iris hypopigmentation |
Light eye color
|
0007730 |
| Laryngeal stridor | 0006511 | |
| Lethargy | 0001254 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Recurrent fungal infections | 0002841 | |
| Visual field defect |
Partial loss of field of vision
|
0001123 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Conjunctivitis |
Pink eye
|
0000509 |
| Decreased biotinidase level | 0410145 | |
| Diarrhea |
Watery stool
|
0002014 |
| Diffuse cerebellar atrophy | 0100275 | |
| Diffuse cerebral atrophy | 0002506 | |
| Feeding difficulties in infancy | 0008872 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperammonemia |
High blood ammonia levels
|
0001987 |
| Organic aciduria | 0001992 | |
| Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
| Seborrheic dermatitis | 0001051 | |
| Seizure | 0001250 | |
| Sensorineural hearing impairment | 0000407 | |
| Skin rash | 0000988 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
| Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
| Vomiting |
Throwing up
|
0002013 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. - An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn
screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics. - Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The symptoms of BTD deficiency overlap with those of other metabolic diseases, including holocarboxylase synthetase deficiency (see this term), isolated carboxylase deficiency, nutritional biotin deficiency, zinc deficiency and essential fatty acid deficiency.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Biotinidase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Biotinidase deficiency. Click on the link to view a sample search on this topic.
References
- Biotinidase deficiency. Genetics Home Reference (GHR). December, 2014; https://www.ghr.nlm.nih.gov/condition/biotinidase-deficiency.
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