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Inborn Errors of Metabolism
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Surekha Pendyal, Areeg Hassan El-Gharbawy
To be used for energy, galactose needs to be converted to glucose via the Leloir pathway in the liver (Figure 23.2). Defects in three different enzymes: galactose-1-phosphate uridyl transferase (GALT), galactokinase, and galactose epimerase (GALE) can occur in this pathway that can result in galactosemia. Of these, GALT deficiency is the most common and has significant genotype-phenotype correlation based on residual enzyme activity.
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
Premature Ovarian Insufficiency (POI) is an impairment of the ovarian function before the age of 40, manifesting with menstrual abnormalities and infertility associated with decreased ovarian reserve [1]. Its diagnosis includes elevated concentration of FSH (>25 mIU/mL) observed twice at least 4 weeks apart and amenorrhea/oligomenorrhoea lasting for at least 4 months [2]. Among a wide spectrum of disorders leading to ovarian insufficiency is an autosomal recessive disease, known as classic galactosemia – an inborn defect of the enzyme GALT (galactose-1-phosphate uridylyltransferase) [3–5]. The risk of developing POI is high in individuals with galactosemia and its prevalence rate may even exceed 90% [6]. Importantly, ovarian dysfunction seems to be a diet-independent complication [7] and is observed, usually in adolescence, in the form of primary or secondary amenorrhea [8,9]. Generally, considering the other causes of POI, especially its idiopathic manifestation, the chance for spontaneous pregnancy is estimated to reach 5%–10% [10]. According to some authors, those rates in galactosemia may differ slightly [11,12]. In 2008, Gubbels et al. reviewed the literature and identified 50 galactosemic patients who successfully conceived [12]. We present a case report of a patient who became pregnant despite unfavorable factors.
The need for additional care in patients with classical galactosaemia
Published in Disability and Rehabilitation, 2019
Lindsey Welling, Anke Meester-Delver, Terry G. Derks, Mirian C. H. Janssen, Carla E. M. Hollak, Maaike de Vries, Annet M. Bosch
We performed a cross-sectional study, in which Capacity Profile scores for the five domains of body function were determined in a single semi-structured interview with patients and/or parents. Additional questions were asked concerning: time of start of dietary treatment and dietary compliance, current and past interventions (speech and language therapy, physiotherapy, and mental health care), educational attainment, work, living situation, and relationships. Residual galactose-1-phosphate uridyltransferase enzyme activity, and genetic analysis were retrospectively collected from the patients’ medical charts.