Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Grünert, Sarah C.; Schmitt, Robert Niklas; Schlatter, Sonja Marina; Gemperle-Britschgi, Corinne; Balcı, Mehmet Cihan; Berg, Volker; Çöker, Mahmut; Demirkol, Mübeccel; Derks, Terry G J; Gökçay, Gülden; Uçar, Sema Kalkan; Konstantopoulou, Vassiliki; Korenke, Georg Christoph; Lotz-Havla, Amelie S.; Schlune, Andrea; Staufner, Christian; Tran, Christel; Visser, Gepke; Schwab, Karl Otfried; Fukao, Toshiyuki; Sass, Jörn Oliver

doi:10.1016/j.ymgme.2017.06.012

Cited by 17 publications

(23 citation statements)

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“…Twenty-eight patients were diagnosed while asymptomatic, either by newborn screening or by family screening due to an affected sibling. Despite the presymptomatic diagnosis, three patients developed a metabolic crisis later during infancy or childhood [5]. Information on the number of metabolic decompensations was available for 221 patients (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Notably, only for 29 of the 67 homozygous patients for whom information on parental consanguinity was available, parents were actually reported to be related. The most common mutation was the ACAT1 c.622C > T, p.(Arg208*) variant, a stop mutation that was found in at least 36 individuals (50% in homozygosity and 50% in compound heterozygosity) of Vietnamese, Dutch and Turkish origin [3,5]. Thus, it may be a frequent cause of MATD in a wider range of populations.…”

Section: Resultsmentioning

confidence: 99%

“…In 2017, Paquay et al described 26 French patients born between 1986 and 2014 [2], and Nguyen et al 41 patients born in Vietnam between 2002 and 2016 [3]. In the same year 2017, Abdelkreem et al reported 10 MATD patients from Southern India [4] and Grünert et al 32 patients who were mainly of European/Turkish origin [5]. In 2019, Abdelkreem et al have provided an update on ACAT1 variants and their molecular consequences [6].…”

Section: Introductionmentioning

confidence: 99%

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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

Grünert

Sass

2020

Orphanet J Rare Dis

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Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetylcoenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. Methods: 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. Results: 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. Conclusion: 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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

Grünert

Sass

2020

Orphanet J Rare Dis

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“…28 patients were diagnosed while asymptomatic, either by newborn screening or by family screening due to an affected sibling. Despite the presymptomatic diagnosis, three patients developed a metabolic crisis later during infancy or childhood [5]. Information on the number of metabolic decompensations was available for 221 patients (Fig.…”

Section: Resultsmentioning

confidence: 99%

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

Grünert

Sass

2019

Preprint

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Background: 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. Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. 244 patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed. Results: 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 two 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.Conclusion: 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.

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“…Diğer iki hasta verileri ve mutasyon analiz sonuçları daha önceki yıllarda Sass ve ark. (16) tarafından da literatürde paylaşılmıştır. Ayrıca hastalarda saptanan p.Asp317Asn (c.949G>A) mutasyonu Otsuka H ve ark.…”

Section: Discussionunclassified

Recurrent ketoacidosis: Is it a ketone metabolism disorder?

Canda¹,

Yazici²,

Er³

et al. 2018

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Amaç: Keton cisim oluşumu (ketogenez) bozuklukları; mitokondriyel 3-hidroksi-3metil glutaril CoA sentaz (Mhs) ve 3-hidroksi-3-metil glutaril CoA liyaz (HL) enzim eksiklikleri sonucu oluşur. Keton cisim yıkımı (ketoliz) bozuklukları ise suksinil CoA: 3 oksoasit CoA transferaz (SCOT) ve asetoasetil CoA thiolaz-beta ketotiolaz (MAT) enzim eksiklikleri sonucu oluşmaktadır. Keton metabolizma bozukluğu tanısıyla izlenen hastaların klinik ve laboratuvar bulguları ile değerlendirilmesi amaçlandı. Yöntem: Keton metabolizması bozukluğu tanısıyla izlenen hasta verileri retrospektif olarak incelendi. Bulgular: Dört hastada HL eksikliği, 3 hastada MAT eksikliği ve 2 hastada SCOT eksikliği tanısı mevcuttu. Hastaların ortanca yaşı 5 yıl (6 ay-15,5 yıl), ilk metabolik dekompanzasyon atak yaşı ortalama 7,7 ay (22 gün-19 ay) idi. MAT eksikliği olan bir hasta, kardeş taraması ile asemptomatik dönemde tanı aldı. İki hastada spastik tetraparezi gibi ağır nörolojik defisit gelişti. Dekompanzasyon ataklarının beslenememe, kusma ve gastroenterit gibi infeksiyon sonrası geliştiği görüldü. Sonuç: Açıklanamayan metabolik asidoz atakları durumunda keton metabolizma bozuklukları akılda tutulmalıdır. Akut dekompanzasyon değişik yaşlarda ortaya çıkabilir, klinik şiddeti değişken olabilir. Erken tanı ve uygun tedavi mortalite ve morbidite açısından çok önemlidir.

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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Cited by 17 publications

References 51 publications

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

Recurrent ketoacidosis: Is it a ketone metabolism disorder?

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