Holocarboxylase synthetase deficiency: Report of one case.

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Title:	Holocarboxylase synthetase deficiency: Report of one case.
Authors:	周宜卿(I-Ching Chou);王仲興(Chung-Hsing Wang);林瑋德(Wei-De Lin);林欣辰(Hsin-Chen Lin);蔡長海(Chang-Hai Tsai);王作仁
Contributors:	中醫學院中西醫結合研究所;中國附醫兒童醫學中心小兒神經科
Date:	2006
Issue Date:	2009-08-20 19:18:43 (UTC+8)
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 Taiwanica47(6):309~311
Appears in Collections:	[Graduate Institute of Integrated Medicine] Journal articles

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