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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6716


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6716


    Title: Holocarboxylase synthetase deficiency: Report of one case
    Authors: I-Ching Chou;Chung-Hsing Wang;Wei-De Lin;Hsin-Chen Lin;Chang-Hai Tsai
    Date: 2006
    Issue Date: 2009-12-23 14:21:47 (UTC+8)
    Publisher: Asia University
    Abstract: Holocarboxylase synthetase (HCS) is an enzyme that catalyzes biotin incorporation into carboxylases, and its deficiency causes biotin-responsive multiple carboxylase deficiency. We report a patient who had his first episode at 32 months of age. The main clinical findings were a characteristic rash, projectile vomiting, progressive consciousness loss, organophosphate order, and hypotension. Laboratory examinations showed metabolic acidosis with ketolactic acidosis, hyperammonemia, and urine organic acid profile suggestive of a biotin utilization abnormality consistent with multiple carboxylase deficiency. Nucleotide sequence analysis of the biotinidase gene of the patient revealed negative finding, however, analysis of HCS gene found a homozygous 1809C->T (R508W) mutation. R508W is a rare mutation in Taiwanese HCS deficiency patients, which is associated with the late-onset phenotype. The patient responded dramatically to biotin, and has remained normal growth and development during more than three years of follow-up. Therefore, a high index of suspicion for timely diagnosis and treatment could prevent severe complications.
    Relation: Acta paediatrica Taiwanica 47 (6): 309-311
    Appears in Collections:[醫學暨健康學院] 期刊論文

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