2017
DOI: 10.4274/tjh.2017.0231
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A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation

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Cited by 7 publications
(11 citation statements)
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“…In contrast to the formerly described individuals who mostly presented with MLASA1 in late childhood (Supplemental Table S2), this patient presented at an early childhood age with a typical MLASA1 phenotype (e.g., exercise intolerance, lactic acidosis, and sideroblastic anemia), which are all reported features in patients with PUS1 variants (Inbal et al 1995; Casas and Fischel-Ghodsian 2004; Zeharia et al 2005; Fernandez-Vizarra et al 2007; Metodiev et al 2015; Cao et al 2016; Kasapkara et al 2017). However, it is highly likely that her clinical phenotype, such as the exercise intolerance and elevated lactate, was exacerbated by the second inherited homozygous variant (c.237 + 1G > A) in the splice site of the PFKM .…”
Section: Discussioncontrasting
confidence: 68%
See 1 more Smart Citation
“…In contrast to the formerly described individuals who mostly presented with MLASA1 in late childhood (Supplemental Table S2), this patient presented at an early childhood age with a typical MLASA1 phenotype (e.g., exercise intolerance, lactic acidosis, and sideroblastic anemia), which are all reported features in patients with PUS1 variants (Inbal et al 1995; Casas and Fischel-Ghodsian 2004; Zeharia et al 2005; Fernandez-Vizarra et al 2007; Metodiev et al 2015; Cao et al 2016; Kasapkara et al 2017). However, it is highly likely that her clinical phenotype, such as the exercise intolerance and elevated lactate, was exacerbated by the second inherited homozygous variant (c.237 + 1G > A) in the splice site of the PFKM .…”
Section: Discussioncontrasting
confidence: 68%
“…Patients with MLASA typically present in late childhood with exercise intolerance, muscle weakness, and in some cases mild intellectual disability and dysmorphic features. Sideroblastic anemia is also often present, a condition defined by the accumulation of iron-laden mitochondria in a ring around the nucleus because of the inability of the cell to incorporate iron into hemoglobin (Inbal et al 1995; Casas and Fischel-Ghodsian 2004; Zeharia et al 2005; Fernandez-Vizarra et al 2007; Metodiev et al 2015; Cao et al 2016; Kasapkara et al 2017). This deficiency in iron metabolism is suggested to be the result of impaired mitochondrial translation in MLASA characterized by reduced OXPHOS complex activity and abundance (Richardson et al 2010; Riley et al 2010; Fleming 2011).…”
Section: Introductionmentioning
confidence: 99%
“…There are anecdotal reports of the efficacy of coenzyme Q10 in the treatment of MLASA with improvement in both the myopathy and the transfusion-dependent anemia. 59,60 Beyond anecdotes and supportive care, there is no standard treatment for the anemia in syndromic cases. Treatment with corticosteroids or ESA, for instance, have failed to demonstrate efficacy in some of the severe syndromic forms of CSA such as Pearson marrow-pancreas syndrome.…”
Section: Diagnosis and Treatmentmentioning
confidence: 99%
“…Another less severely affected Italian patient was compound heterozygous for a frameshifting deletion and a missense pathogenic variant ( PUS1 c.487delA, p.Ile163Leufs*4 and c.884 G > A, p.Arg295Glu) [9]. The first Turkish patient was homozygous for a missense pathogenic variant ( PUS1 c.883C > T, p.Arg295Trp) while the second Turkish patient was homozygous for a different missense pathogenic variant ( PUS1 c.302A > G, p.Gln301Arg) [[10], [11]].…”
Section: Introductionmentioning
confidence: 99%