Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstr. 1, 79106, Freiburg, Germany.
Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359, Rheinbach, Germany.
Orphanet J Rare Dis. 2020 Apr 28;15(1):106. doi: 10.1186/s13023-020-01357-0.
2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1.
We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed.
For 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities.
This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.
2-甲基乙酰乙酰辅酶 A 硫解酶缺乏症（MATD；线粒体乙酰乙酰辅酶 A 硫解酶 T2/β-酮硫解酶缺乏）是一种常染色体隐性遗传疾病，由于 ACAT1 基因突变导致酮体利用和异亮氨酸降解异常。
我们对所有可用的 MATD 患者临床描述进行了系统的文献检索。共确定了 244 例患者，并对其进行了分析。介绍并讨论了临床病程和生化数据。
89.6%的患者至少报告了一次急性代谢失代偿。首次出现症状的年龄为 2 天至 8 岁（中位数 12 个月）。超过 82%的患者在生命的头 2 年出现症状，而在新生儿期发病则较为少见（3.4%）。77.0%（157/204 例）的患者表现出正常的精神运动发育，无神经异常。
本全面数据分析提供了文献中所有 MATD 病例的系统概述。与许多其他有机酸血症相比，MATD 是一种良性疾病，其预后通常较好。
