ACTA-I基因复合杂合突变引起β-酮硫解酶缺乏症临床分析

doi:10.3969/j.issn.2095-9400.2019.08.012

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Abstract Objective: To discuss the clinical manifestation of β-ketothiolase deficiency for early diagnosis so as to guide clinical practice. Methods: A case of β-ketothiolase deficiency diagnosed by gene sequencing in the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University was reviewed. The data of clinical manifestation, laboratory examination and treatment were collected and summarized. Literature review on the treatment of β-ketothiolase deficiency was done. Results: A 4-year-old boy was admitted to our hospital with a second severe ketoacidosis attack. The first attack occurred at the age of 1 year and 10 months. The blood gas analysis indicated severe metabolic acidosis with normal blood ammonia, lactic acid, lipid profiles and uric acid. The urinary ketone was determined to be (++++), the level of 2 methyl 3 hydroxyisobutyric acid was also increased. In the second attack, the patient presented hypoglycemia with decreased blood glucose level at 2.6 mmol/L, while blood olhydroxybutyric acid was significantly increased, and blood free fatty acid was at normal high value. Urine ketone was determined to be (++). Blood tandem mass spectrometry showed a slight increase of 3-hydroxybutyrate carnitine, and urine gas mass spectrometry showed an increase of 3-hydroxybutyric acid. The result of gene sequencing revealed a compound, heterozygous mutation in ACAT-I (c.370A>C, c. 473A>G) of this patient, thusβ-ketothiolase deficiency was ultimately confirmed. Conclusion: It is necessary to consider the possibility of β-ketothiolase deficiency in infants with severe inexplicable ketoacidosis that happens after fasting, respiratory tract infection or gastroenteritis. When there are no specific abnormalities in blood and urine tandem mass spectrometry, ACTA-I gene detection is needed for further confirmation.

Key words： β-ketothionase deficiency ACTA-I gene ketosis child

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	GAO Yufeng
	SHAN Xiao’ou

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https://xb.wmu.edu.cn/EN/10.3969/j.issn.2095-9400.2019.08.012 OR https://xb.wmu.edu.cn/EN/Y2019/V49/I8/606

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