Biotin deficiency in an infant fed with amino acid formula
Biotin deficiency in an infant fed with amino acid formula
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DOI：
10.1111/j.1346-8138.2005.tb00758.x
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发表时间：
2005-04-01
影响因子：
3.1
通讯作者：
Kuhara, T
中科院分区：
文献类型：
--
作者：
Fujimoto, W;Inaoki, M;Kuhara, T
从母乳和配方奶中断奶的婴儿很少遇到生物素缺乏。它的特点是脱发和鳞状红斑性皮炎分布在身体的孔口周围。我们报告一个5个月大的日本婴儿，典型的皮肤病变，被诊断为新生儿消化不良，只喂养氨基酸配方。血清和尿液生物素水平低于正常范围，但锌和生物素酶在正常范围内。尿中3-甲基巴豆酰甘氨酸、3-羟基异戊酸和甲基柠檬酸的排泄量显著升高。每日口服补充1毫克生物素可显著改善周围皮炎和毛发生长，同时完全消除有机酸尿。本病例提示特征性皮肤表现是诊断生物素缺乏最重要的线索，并提示尿中生物素排泄和有机酸尿，而不是血清生物素浓度，是评估患者生物素缺乏状态的敏感指标。
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.