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Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
Matysik et al. have described a GC/MS method for the simultaneous determination of a variety of sterols (24-, 25-, 27-hydroxycholesterol; 7-ketocholesterol, lanosterol, lathosterol, 7-dehydrocholesterol, desmosterol, stigmasterol, sitosterol, and campesterol) in human plasma [41]. GC/MS was used to detect methylmalonicaciduria in a Chinese population. Over a 5 year period, 398 cases were detected, out of which 160 patients presented during neonatal period [42]. Cangemi et al. developed a GC/MS method for the determination of galactose-1-phosphate in RBC and suggest that this might be suitable in the treatment of classical galactosemia [43].
Nutrition Therapy of Inborn Errors of Metabolism
Published in Fima Lifshitz, Childhood Nutrition, 2020
Kimberlee Michals-Matalon, Reuben Matalon
Galactosemia is caused by enzyme defects affecting galactose utilization.21 The disease most commonly associated with galactosemia is deficiency of the enzyme galactose-1 -phosphate uridyl transferase. Many states screen for this condition in the newborn period. Patients with galactosemia present with vomiting after ingestion of galactose-containing formula. If galactose ingestion continues, the patient fails to thrive, has deranged liver functions which progress to jaundice, hepatomegaly, and later hemolysis and ascites, with deaths often occurring due to E-coli sepsis. If the patient survives, there can be mental retardation and cataracts.
Galactosemia
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
Galactosemia is an inborn error of carbohydrate metabolism that results from deficiency of galactose-1-phosphate uridyl transferase (EC 2.7.7.12) (Figure 57.1). The disorder was first described in 1935 by Mason and Turner [1]. They found the reducing sugar in the urine and characterized it chemically as galactose. It is now clear that galactosuria may also occur in galactokinase deficiency, and in uridinediphosphate-4-epimerase deficiency. The enzyme deficiency was discovered by Isselbacher and colleagues [2]. The pathway of galactose metabolism had been worked out a few years earlier by Leloir and by Kalckar and their colleagues [3, 4]. The first step in the utilization is its conversion to galactose-1-phosphate (Gal-1-P) [5], which is catalyzed by galactokinase:
Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature
Published in Gynecological Endocrinology, 2022
Jagoda Kruszewska, Hanna Laudy-Wiaderny, Sandra Krzywdzinska, Monika Grymowicz, Roman Smolarczyk, Blazej Meczekalski
Over the years, there have been several attempts to establish possible features favoring the chances of conception, such as spontaneous puberty, presence of secondary amenorrhea instead of primary, genotype, or adherence to diet [12]. The Q188R mutation within the GALT gene is the most predominant, especially in Europe [42,43] and is almost invariably associated with a high risk of POI development [15]. Yet despite the adverse genotype, there are reports of several individuals that unexpectedly conceived [25,38,40]. It was concluded that neither the genotype nor GALT activity seem to be the predictors [12]. Guerrero et al. showed that increased level of galactose-1-phosphate may contribute to more severe POI [15]. The predictive role of spontaneous puberty as a factor favoring the chances of pregnancy is debatable as there are studies supporting [9,12] as well as undermining such relation [11]. Young age (under 25) did not correlate with the occurrence of spontaneous conception [11].
Repurposing drugs for the treatment of galactosemia
Published in Expert Opinion on Orphan Drugs, 2019
Types I and III galactosemia result in a cellular buildup of galactose 1-phosphate. This molecule is considered to be toxic to cells, although no molecular target(s) have been conclusively identified. Another detrimental effect of the accumulation of this compound is the reduction in the amount of phosphate available to other metabolic processes. Phosphate is essential for energy metabolism involving ATP, the synthesis of nucleic acids and phospholipids, and the control of protein activity by phosphorylation. Disruption of any of these processes is likely to be detrimental to the cell and the organism.
Premature ovarian insufficiency: an International Menopause Society White Paper
Published in Climacteric, 2020
N. Panay, R. A. Anderson, R. E. Nappi, A. J. Vincent, S. Vujovic, L. Webber, W. Wolfman
The autosomal genetic defect known as galactosemia, caused by a deficiency of galactose-1-phosphate uridylotransferase (GALT), is associated with accumulation of galactose in organs with high GALT expression (liver, kidney, ovary, and heart) and may cause oocyte toxic levels of galactose that lead to POI34.