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Review
. 2005 Apr;32(4):256-61.
doi: 10.1111/j.1346-8138.2005.tb00758.x.

Biotin deficiency in an infant fed with amino acid formula

Wataru Fujimoto  1 , Makoto Inaoki, Toru Fukui, Yoshito Inoue, Tomiko Kuhara
Affiliations
Review

Biotin deficiency in an infant fed with amino acid formula

Wataru Fujimoto et al. J Dermatol. 2005 Apr.

Abstract

Biotin deficiency is rarely encountered in an infant on weaning from breast and formula feeding. It is characterized by alopecia and scaly, erythematous dermatitis distributed around the body orifices. We report a 5-month-old Japanese infant with typical skin lesions who had been diagnosed as a neonate with dyspepsia and fed only an amino acid formula. Serum and urine levels of biotin were below the normal range, but zinc and biotinidase were within normal range. Urinary excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and methylcitric acid was significantly elevated. Daily oral supplementation with 1 mg of biotin resulted in dramatic improvement of the periorificial dermatitis and hair growth together with a complete disappearance of the organic aciduria. Our case shows that the characteristic skin manifestations are the most important clue to the diagnosis of biotin deficiency and demonstrated that urinary excretion of biotin and organic aciduria, rather than the serum concentration of biotin, are the sensitive indicators for evaluating the patient's status of biotin deficiency.

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