Treatable Intellectual Disability

Biotinidase Deficiency

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
BTD (AR)

Diagnostic Test
Biotinidase Enzyme Activity

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SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, epilepsy, sensorineural hearing loss

Non-Neurological
Rash, alopecia

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THERAPY

Treatment
Biotin Supplement

Level of Evidence
2c

Clinical Practice
Standard of Care

Treatment Effect
improves psychomotor development/IQ, neurological & systemic manifestations



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Biotinidase Deficiency

is an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. Prevalence of clinical biotinidase (BTD) deficiency is estimated to be 1/61,000. Carrier frequency in the general population is approximately 1/120. Symptoms of BTD deficiency typically appear within the first few months of life, but later onset has also been reported. (Source: Orphanet)

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