Biotinidase deficiency in Pakistani children; what needs to be known and done.
نویسندگان
چکیده
منابع مشابه
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical sympto...
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Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia. Two unrelated probands were identified among the 81,243 newborn infants who were screened. In addition, two siblings of one of these infants were found to be affected. Both probands had mild neurologic symptoms at two and four months, ...
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Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...
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Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, seizures and ataxia and occasionally by candidiasis and developmental delay. Biochemically, these individuals exhibit findings consistent with a combined deficiency of the biotin-dependent carboxylases. We have found that the activity of the enzyme biotinidase is also deficient in the sera of five aff...
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عنوان ژورنال:
- JPMA. The Journal of the Pakistan Medical Association
دوره 62 4 شماره
صفحات -
تاریخ انتشار 2012