Serious Warning Signs Of A Biotinidase Deficiency

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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Ataxia

Ataxia refers to difficulties with balance and coordination, and it can manifest differently in each patient. Children who have started walking may walk with a gait that veers off to one side; the child may also walk backward, sway, or stop and start while trying to walk. This disorder can also include slurred speech, and patients may develop hand tremors. There may be abnormalities in eye movement patterns, and fine motor skills may deteriorate. Some patients may also experience heart problems. To evaluate the severity of these symptoms, doctors will check the patient's gait, and they will also test the patient's reflexes, grip strength, and range of motion. Specific tests to detect tremors will be used, and the doctor will also evaluate the patient's eye movements. These symptoms usually improve with proper treatment for biotinidase deficiency, and patients may also have speech, occupational, and physical therapy. These therapies help patients walk in a more balanced way and speak more easily. Parents of children with a biotinidase deficiency should monitor their child closely for signs of new or worsening balance, tremors, or coordination difficulties, and these should be mentioned to the child's pediatrician or neurologist as soon as possible.

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