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Short-chain acyl CoA dehydrogenase (SCAD) deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The presence of SCAD variants and/or biochemical evidence of SCAD enzyme dysfunction in apparently unaffected individuals, as has been shown in family members of probands [1, 28], or asymptomatic patients identified on newborn screening, have raised questions of their clinical relevance [3, 35]. The benefits of an early diagnosis is unclear [36, 37]. The natural history remains poorly understood. There is insufficient evidence for optimal treatment [38]. The American College of Medical Genetics published an expert panel report which recommended the exclusion of SCAD deficiency from the core panel of fatty acid oxidation disorders screened. However, since SCAD deficiency is in a differential of the core diseases, it was advised that SCAD deficiency be retained as a secondary target [33]. Newborn screening for SCAD deficiency is performed in 35 of 51 states in the United States (National Newborn Screening Status Report NNSGRC 2008), as well as in Austria and Belgium [38]. In Great Britain, Denmark, and the Netherlands, SCAD deficiency is not included in the programs of newborn screening [38].
Management of pregnancy with a history of late neonatal/infant death
Published in Minakshi Rohilla, Recurrent Pregnancy Loss and Adverse Natal Outcomes, 2020
Darshan Hosapatna Basavarajappa
Common IEM disorders include Amino acid disordersFatty acid oxidation disordersStorage disorders, including both carbohydrate and lysosomal disordersOrganic acid disorders
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
The manifestation of psychiatric disturbances also occurs more frequently in patients with MD than in the general population. For example, in one group of 36 patients with MD and fatty acid oxidation disorders, the lifetime prevalence of psychiatric diagnosis was 69% (Fattal et al., 2007). Psychiatric comorbidities of mitochondrial disorders are highly prevalent in adults; however, children can also manifest a variety of psychiatric features. Psychiatric symptom (especially depression) may be even the first symptom of the mitochondrial disease. All of affective disorders with major depressive disorder and bipolar disorder, cognitive deterioration, psychosis, and anxiety, may be present, especially in MELAS or mitochondrial DNA deletions and other point mutations.
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype
Published in Archives of Physiology and Biochemistry, 2021
Sofia R. Brandão, Rita Ferreira, Hugo Rocha
Mitochondrial fatty acid β-oxidation disorders (FAOD) are a group of inherited metabolic disorders, affecting mitochondrial enzymes involved in the β-oxidation of fatty acids (Kompare and Rizzo 2008, Sahai and Marsden 2009). These disorders are usually transmitted in an autosomal recessive pattern being individually rare, but together they represent a large and important group of inherited metabolic disorders (Sahai and Marsden 2009). The main affected organs include heart, liver and skeletal muscles (Kompare and Rizzo 2008). The mortality and morbidity rates associated with these conditions can be prevented, or at least decreased, if disorders are early recognized and treated (Sahai and Marsden 2009). Indeed, fatty acid oxidation disorders can lead to serious health problems and even to death if not treated or when the diagnosis is done too late. The advantages of an early intervention make this group of disorders main targets of newborn screening (NBS) programs worldwide (Sahai and Marsden 2009, Lindner et al.2010, Rocha et al.2014).
Metabolomics profiling to investigate nanomaterial toxicity in vitro and in vivo
Published in Nanotoxicology, 2020
Anne Bannuscher, Bryan Hellack, Aileen Bahl, Julie Laloy, Hildegard Herman, Miruna S. Stan, Anca Dinischiotu, Anna Giusti, Benjamin-Christoph Krause, Jutta Tentschert, Marcel Roșu, Cornel Balta, Anca Hermenean, Martin Wiemann, Andreas Luch, Andrea Haase
STIS results showed clear differences between the two core materials on the metabolomics layer. Some parallels were detectable, see Figures 5 and 6, such as increased acylcarnitines that are important in mitochondrial energy metabolism (for fatty acid oxidation) and that are used in clinical screenings to detect fatty acid oxidation disorders (Rinaldo, Cowan, and Matern 2008; Otsubo et al. 2015). With respect to NM, CuO NMs elevated acylcarnitines such as C2, C16:1 and C18:0 whereby it is well known that CuO induces oxidative stress via ion-release (Studer et al. 2010; Boyles et al. 2016). Furthermore, acylcarnitines like L-carnitine and acyl-carnitine were also shown to exert anti-oxidative and anti-inflammatory effects, for example, in human endothelial cells that were treated with H2O2 (Calo et al. 2006). Another study revealed a prevention of apoptosis by treatments with L-carnitine of rats with congestive heart failure and in vitro skeletal muscle cells treated with staurosporine (Vescovo et al. 2002; Calo et al. 2006). A study in mice discovered an accumulation of acylcarnitines in lung by stress via C18:2 or C16:2-OH leading to a reduced lung function (Otsubo et al. 2015). Thus, elevated acylcarnitines observed in our study might be a reaction to NM-induced oxidative stress and simultaneously serve as antiapoptotic agents against lung damage.
Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
Published in Acta Clinica Belgica, 2019
Meltem Koca, Abdulsamet Erden, Berkan Armagan, Alper Sari, Fatih Yildiz, Sevim Ozdamar, Umut Kalyoncu, Omer Karadag
Serum CK level measurement is one of the initial laboratory tests in the diagnostic evaluation of myopathies. It is the most sensitive marker of muscle fiber injury but a normal CK level does not exclude the diagnosis of myopathy. In PM and DM, CK is generally found elevated up to 50 times of upper limit of normal, but in IBM it can be normal or mildly elevated. Also in rare cases of PM and several instances of DM, serum CK level may be normal [9]. In GAII, CK levels are usually slightly or moderately elevated or even can be normal [10]. Moreover, in GAII muscle weakness and CK level may fluctuate and worsen during infections and catabolic stress [11]. In these two cases, CK levels were found to be moderately elevated on admission. Additionally, during follow-up, episodic elevations of CK and liver enzymes (like ALT, AST and LDH) which are characterized in the milder forms of fatty acid oxidation disorders were observed in our cases.