Rare Pulmonology News

Disease Profile

Biotinidase deficiency

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.[1]

Symptoms

The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.[1]

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 developmental delay
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
Autosomal recessive inheritance
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.

      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

        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

            1. Biotinidase deficiency. Genetics Home Reference (GHR). December, 2014; https://www.ghr.nlm.nih.gov/condition/biotinidase-deficiency.

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