Serious Warning Signs Of A Biotinidase Deficiency

Optic Atrophy

Optic atrophy usually occurs in older children who have a biotinidase deficiency. The condition affects the optic nerve and develops when the retinal ganglion cell axons die. These axons form the optic nerve. On examination, patients who have optic atrophy will have a very pale optic nerve, and the vision will be impaired. Patients who have mild atrophy may still have good visual acuity, but they may not be able to distinguish colors. Other symptoms include blurry vision, trouble with peripheral vision, and reduced sharpness of the patient's vision. In the most severe cases, patients may be legally blind, and they may not be able to distinguish light. Optic atrophy is normally diagnosed with a comprehensive vision examination. The doctor will check the patient's eye pressure and assess their color vision, visual acuity, peripheral vision, and the ability to distinguish contrast. A fundoscopy exam will also be completed. Since axons cannot be replaced, early detection of this condition is essential for preserving vision.

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Seizures

Seizures are often one of the first symptoms to appear in individuals with biotinidase deficiencies. A seizure is an unexpected burst of electrical activity in the brain. Some patients may experience multiple seizures per day, and others may only have a seizure occasionally. When a patient has a tonic-clonic seizure, they may lose consciousness and start having rapid tremors of the legs and arms. Breathing may change, and patients may experience drooling or an inability to swallow. In other seizure types, patients may remain conscious and appear spacey or detached. After the seizure ends, the patient has no memory of this time, and they may feel depressed or weak. Some patients may fall asleep after the seizure, and others may feel thirsty or nauseous. To diagnose a seizure, neurologists use an electroencephalogram, which records brain wave activity, enabling the doctor to identify any seizure activity the patient experiences during the recording. Treatment for a seizure normally consists of medications called anticonvulsants, which can reduce or eliminate seizure activity in some patients. Individuals who have frequent seizure activity may need to take several anticonvulsants to gain control of their symptoms.

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