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Page 1
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Peetsold M, Goorden S, Breuning M, Williams M, Bakker J, Jacobs E, Hussaarts-Odijk L, Peeters C. Peetsold M, et al. J Child Neurol. 2021 Mar;36(4):310-323. doi: 10.1177/0883073820962931. Epub 2020 Oct 14. J Child Neurol. 2021. PMID: 33052056 Review.
Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to biallelic mutations of the fumarase hydratase (FH) gene. ...
Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of the enzyme fumarase, due to bialleli …
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA. DiMauro S, et al. J Inherit Metab Dis. 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. J Inherit Metab Dis. 1987. PMID: 2824920 Review.
The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of b …
The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondria …
Gene of the month: FH.
Zyla RE, Hodgson A. Zyla RE, et al. J Clin Pathol. 2021 Oct;74(10):615-619. doi: 10.1136/jclinpath-2021-207830. Epub 2021 Aug 5. J Clin Pathol. 2021. PMID: 34353877 Review.
Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in severe neurological and developmental abnormalities. ...
Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in severe neurological and devel …
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Remes AM, Rantala H, Hiltunen JK, Leisti J, Ruokonen A. Remes AM, et al. Pediatrics. 1992 Apr;89(4 Pt 2):730-4. Pediatrics. 1992. PMID: 1557269 Review.
A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is described. Both patients initially presented with polyhydramnios and enlarged cerebral ventricles in utero, with subsequent cerebral atrophy, …
A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is d …
Defects of pyruvate metabolism and the Krebs cycle.
De Meirleir L. De Meirleir L. J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4. J Child Neurol. 2002. PMID: 12597053 Review.
This article describes defects in pyruvate metabolism (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency) and Krebs cycle defects such as fumarase deficiency. Clinical characterizations and diagnostic strategies have been developed for each of these …
This article describes defects in pyruvate metabolism (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency) and Krebs cycle d …
The expanding clinical spectrum of mitochondrial diseases.
De Vivo DC. De Vivo DC. Brain Dev. 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. Brain Dev. 1993. PMID: 8338207 Review.
Only four defects of the Krebs cycle are known: fumarase deficiency, dihydrolipoyl dehydrogenase deficiency, alpha-ketoglutarate dehydrogenase deficiency, and combined defects of muscle succinate dehydrogenase and aconitase. ...
Only four defects of the Krebs cycle are known: fumarase deficiency, dihydrolipoyl dehydrogenase deficiency, alpha-ketoglutara …
[Fumarase deficiency].
Miyabayashi S. Miyabayashi S. Nihon Rinsho. 2002 Apr;60 Suppl 4:759-62. Nihon Rinsho. 2002. PMID: 12013993 Review. Japanese. No abstract available.
[Fumarase deficiency].
Naito E. Naito E. Ryoikibetsu Shokogun Shirizu. 2001;(36):107-10. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596337 Review. Japanese. No abstract available.
[Fumarase deficiency].
Miyabayashi S. Miyabayashi S. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):351-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590067 Review. Japanese. No abstract available.
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML. Allegri G, et al. J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15. J Inherit Metab Dis. 2010. PMID: 20549362 Review.
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain abnormalities, developmental delay, and great accumulation of fumaric acid in urine. ...In order to show all features and variants of …
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to …