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What is Biotinidase deficiency?

What is Biotinidase deficiency?

  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Biotinidase deficiency: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
    Source - Diseases Database

Biotinidase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Biotinidase deficiency, or a subtype of Biotinidase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Biotinidase deficiency: Introduction

Types of Biotinidase deficiency:

Broader types of Biotinidase deficiency:

How many people get Biotinidase deficiency?

Prevalance of Biotinidase deficiency: about 1 per 60,000 newborns suffer from profound or partial biotinidase deficiency, Genetics Home Reference website
Prevalance Rate of Biotinidase deficiency: approx 1 in 60,000 or 0.00% or 4,533 people in USA [about data]

How serious is Biotinidase deficiency?

Complications of Biotinidase deficiency: see complications of Biotinidase deficiency

What causes Biotinidase deficiency?

Causes of Biotinidase deficiency: see causes of Biotinidase deficiency

What are the symptoms of Biotinidase deficiency?

Symptoms of Biotinidase deficiency: see symptoms of Biotinidase deficiency

Complications of Biotinidase deficiency: see complications of Biotinidase deficiency

Onset of Biotinidase deficiency: 1 week - 2 years

Can anyone else get Biotinidase deficiency?

More information: see contagiousness of Biotinidase deficiency
Inheritance: see inheritance of Biotinidase deficiency

Biotinidase deficiency: Testing

Misdiagnosis: see misdiagnosis and Biotinidase deficiency.

How is it treated?

Doctors and Medical Specialists for Biotinidase deficiency: Medical Geneticist ; see also doctors and medical specialists for Biotinidase deficiency.
Treatments for Biotinidase deficiency: see treatments for Biotinidase deficiency
Research for Biotinidase deficiency: see research for Biotinidase deficiency

Name and Aliases of Biotinidase deficiency

Main name of condition: Biotinidase deficiency

Other names or spellings for Biotinidase deficiency:

multiple carboxylase deficiency [late onset], carboxylase deficiency, multiple, late onset, Biotin deficiency, BTD deficiency

Multiple carboxylase deficiency [late onset] Source - Diseases Database

BTD deficiency, Biotin deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Biotinidase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Biotinidase deficiency:

 

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