Biotinidase deficiency develops when the body has a very low concentration of biotin, sometimes known as vitamin H. In some patients, biotin may be completely absent. This condition is inherited, and the deficiency itself is caused by the body's lack of ability to recycle and reuse available biotin. Biotin helps the body digest fats, carbohydrates, and protein. Biotinidase deficiency is equally prevalent in males and females, and the first symptoms of the condition normally develop in newborns or in babies less than three months old. In some cases, symptoms may not appear until the child is ten years old. To diagnose the condition, genetic testing can be performed, and newborn babies are routinely tested for this deficiency as part of required newborn screenings. The standard treatment for biotinidase deficiency consists of biotin supplements, and patients normally take between five and twenty milligrams of these supplements daily. While patients have to continue supplementation for life, the majority of patients treated have an excellent prognosis.
If biotinidase deficiency is not identified and treated, serious symptoms may develop. Some of the most common symptoms observed in patients with untreated biotinidase deficiency are outlined below.
Muscle And Limb Weakness
Newborn babies with this condition frequently exhibit muscle and limb weakness. Also known as hypotonia, this symptom is one of the earliest to appear. Pediatricians and neurologists typically perform assessments of newborns who present with muscle and limb weakness. To diagnose hypotonia, doctors start by performing a physical examination. This checks for overly flexible joints, weakness of the muscles in the torso, and tilting of the head when the child pulled into a sitting position. In addition to the exam, doctors may recommend the child get a CT scan or other imaging tests done. Nerve conduction studies, electromyography, or muscle biopsies may be needed for some patients. Physical therapy can help patients with muscle weakness to improve their muscle tone and function.
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