Inborn errors of metabolism
An inherited disease in which the body cannot reuse the vitamin biotin. If it is not recognized, it can cause seizures, floppy muscles, and hearing and vision loss in the first months of life.
Included in Türkiye's National Newborn Screening Programme (heel-prick test) since October 2008. Source
Orphanet has a guideline for emergency doctors for this disease (language: English). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
Biotin is a vitamin the body needs to process fats, proteins and sugars. In this disease, an enzyme called biotinidase works poorly. The body cannot reuse biotin. Because of this, harmful substances build up.
Symptoms often begin in the first months; sometimes they appear later. In the mild type, symptoms may only appear during illness or stress.
The disease can be detected through newborn screening. For the diagnosis, the enzyme level in the blood is measured. A genetic test can also be done.
The main approach is lifelong biotin supplements. Treatment started early can prevent symptoms. If symptoms have already begun, treatment can improve them. However, some problems, such as hearing loss, can be permanent. The doctor who follows the disease decides which treatment is suitable.
To have the disease, a person must receive one changed gene from the mother and one from the father. In each pregnancy, the chance that the child is affected is 1 in 4. Testing of brothers and sisters is recommended even if they have no symptoms. Genetic counselling guides the family.
Source: MedlinePlus Genetics — Biotinidase deficiency · Orphanet — Biotinidase deficiency (ORPHA:79241)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeDiagnosis and screening
Babies found to have biotinidase deficiency through newborn screening in Konya were studied.
TürkiyeDiagnosis and screening
A laboratory study in Ankara examined factors that affect the result of biotinidase screening.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
EUNew treatments and approvals
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:79241
No separate ICD-11 code; WHO classifies this disease under: 5C50.E0 (Classical organic aciduria)
Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.