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There are various diseases that occur in the body due to a lack of enzymes. These diseases are sometimes distinguished as genetic, and sometimes hereditary. They are diseases that are very important to treat, including at all stages. The name of a disease caused by this enzyme is also Biotinidase disease. What kind of ailment is biotinidase disease? What are the most common ages? What should be done to treat it?

Turkey Medicals, “here are the details about biotinidase disease….”

Biotinidase is an enzyme that takes an active part in the metabolism of a vitamin called biotin, which also comes from the name of the disease. Biotin, on the other hand, is seen in the activation of an enzyme called kaoboxylase. The age range of children diagnosed with a deficiency of this enzyme is from muscle to 10 years.


Deficiency of this enzyme is a disease caused by the lack of recycling of vitamin biotin in the body. It is expressed as a hereditary disease. Diagnosis and treatment of this deficiency is very important. This deficiency becomes very obvious towards childhood when it is noticed in the first months of babies.

Early diagnosis of this deficiency is also very important in the treatment of operations. Because the delay in treatment and diagnosis can cause neurological problems, as well as sometimes lead to loss of life. For this reason, this screening of babies born in our country is performed and intervention is started immediately. It is easy to treat the disease diagnosed at an early stage, and this vitamin called biotin begins to be given to the body by mouth. This form of treatment can continue for many years, even for life. At this stage, the state of development of babies begins to be observed.

The incidence rate of this disease in our country is also higher than the world average. We can also list the diseases that can be caused by this disease as follows:

– Hypotonia, that is, weakness in the muscle

– Convulsive transfer cases

– Rashes similar to eczema are encountered on the skin

– Hair may fall out

– Dry cough, apnea, rapid breathing related to breathing

– Infections that may occur in the eye

– Infections that occur in the form of fungi

– Gait disorder, unstable gait

– Observed retardation in development

– Experiencing hearing loss

– A number of diseases can be observed, including problems with vision.


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President of Organ Transplant Center at MedicalPark Hospital Antalya

Turkey's world-renowned organ transplant specialist. Dr. Demirbaş has 104 international publications and 102 national publications.

Physician's Resume:

Born on August 7, 1963 in Çorum, Prof. Dr. Alper Demirbaş has been continuing his work as the President of MedicalPark Antalya Hospital Organ Transplantation Center since 2008.

Prof. who performed the first tissue incompatible kidney transplant in Turkey, the first blood type incompatible kidney transplant, the first kidney-pancreas transplant program and the first cadaveric donor and live donor liver transplant in Antalya. Dr. As of August 2016, Alper Demirbaş has performed 4900 kidney transplants, 500 liver transplants and 95 pancreas transplants.

In addition to being the chairman of 6 national congresses, he has also been an invited speaker at 12 international and 65 national scientific congresses. Dr. Alper Demirbaş was married and the father of 1 girl and 1 boy.


Eczacibasi Medical Award of 2002, Akdeniz University Service Award of 2005, Izder Medical Man of the Year Award of 2006, BÖHAK Medical Man of the Year Award of 2007, Sabah Mediterranean Newspaper Scientist of the Year Award of 2007, ANTIKAD Scientist of the Year Award of 2009, Social Ethics Association Award of 2010, Işık University Medical Man of the Year Award of 2015, VTV Antalya's Brand Value Award of 2015.


Doctor of Medicine Degree Hacettepe University Faculty of Medicine Ankara, General Surgeon Ministry of Health Turkey EKFMG (0-477-343-8), University of Miami School of Medicine Member of Multiple Organ Transplant, ASTS Multiorgan Transplant Scholarship. Lecturer at Kyoto University. Lecturer at University of Essen, Research assistant at the University of Cambridge .

Professional Members:

American Society of Transplant Surgeons, American Transplantation Society Nominated, Middle East and Southern Africa Council Transplantation Society 2007, International Liver Transplantation Association, Turkish Transplantation Association, Turkish Society of Surgery, Turkish Hepatobiliary Surgery Association.


Our website contents consist of articles approved by our Web and Medical Editorial Board with the contributions of our physicians. Our contents are prepared only for informational purposes for public benefit. Be sure to consult your doctor for diagnosis and treatment.
Medically Reviewed by Professor Doctor Alper Demirbaş
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