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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
Lifelong galactose-restricted diet is recommended in classic galactosemia and patients with erythrocyte GALT activity below 10% of normal. This is achieved by elimination of galactose from the diet. Hence, foods to avoid include human milk, all milk-based foods and beverages, organ meats, meat by-products, fermented soy products, and soy sauce. Food- and medication-label reading is important to avoid all dairy products, lactose, casein, whey, etc. The international guidelines for management of classical galactosemia recommend allowing any amount and type of fruits, vegetables, legumes, unfermented soy-based products, aged/mature cheeses (with galactose content of <25 mg/100 g), and the food additives sodium or calcium caseinate. Calcium and vitamin D should be supplemented following age-specific recommendations for general population. There is no consensus regarding needing lifelong dietary treatment for patients with galactosemia with 10%–15% GALT activity. Galactose restriction is not recommended in Duarte galactosemia.
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 inherited as an autosomal recessive trait [36]. The enzyme defect in galactosemia is in the uridyl transferase enzyme (see Figure 57.1) [2]. The abnormality can be detected in the erythrocyte. Cord blood is a useful source for early diagnosis. The defect can also be detected in cultured fibroblasts and amniotic cells, leukocytes, and liver [37]. The other enzymes of galactose metabolism are normal.
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
Published in Platelets, 2023
Ana Marín-Quílez, Christian A. Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, Jose Maria Bastida
Patients with the peripheral epimerase-deficiency galactosemia exhibit enzyme deficiency that is restricted to the circulating blood cells, and it is considered as clinically benign. It has been described as more frequent in some ethnic groups, such as African-Americans [6]. The common phenotype of these patients is galactosemia, caused by the accumulation of galactose metabolites, and the treatment is mainly based on the restriction of lactose and derivatives. Nevertheless, patients with reduced enzymatic activity without galactosemia had also been described [7]. Otherwise, the generalized form of galactosemia III associates with epimerase deficiency in all tissues, and it is more severe and less common than the peripheral form. Several patients worldwide have been described with syndromic manifestations that may include learning difficulties, delayed growth, sensorineural hearing loss, and early-onset cataracts, and, less frequently, cardiac failure and hepatomegaly [2,8–10] (Figure 3). Despite the removal of lactose from diet, it is not sufficient to prevent long-term complications [11]. In the last decade, some patients with an intermediate form of galactosemia have been reported some patients with an intermediate form, which present with syndromic manifestations, less marked than in the generalized form, due to an enzyme activity that is markedly deficient in circulating blood cells, but it is higher than 50% compare to normal levels in other cell types [12].
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
Classic galactosemia is usually diagnosed within the neonatal period after milk introduction due to the accumulation of large amounts of galactose and its toxic metabolites (e.g. galactitol, galactose-1-phosphate) [13,14]. The untreated disorder with its serious implications – jaundice, cirrhosis, renal tubular disease, cataract formation, failure to thrive – may lead to neonatal death, usually from E.coli sepsis [14]. It is generally considered that short-term health consequences observed in infancy reflect galactose toxicity and are reversed rapidly by avoidance of breastfeeding and administration of galactose-free soya milk, whereas long-term complications such as cognitive impairment, speech difficulties, low bone mineral density and POI are rather believed to be diet-independent [14,15]. Our patient avoided a neurological sequel. Nevertheless, features of hypogonadism were observed in adolescence and diagnostic process confirmed POI.
Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns
Published in Expert Review of Molecular Diagnostics, 2018
David Millington, Scott Norton, Raj Singh, Rama Sista, Vijay Srinivasan, Vamsee Pamula
Rapid assays suited to NBS of time critical newborn disorders such as galactosemia have also been developed for whole blood samples on the near patient DMF platform [73]. The application of this technology to single-sample newborn testing near the patient is a major paradigm shift from the centralized model previously described for high-throughput NBS in a central laboratory. Near patient NBS has already been largely implemented in the United States with physiological monitoring for congenital hearing loss and critical congenital heart disease but not yet for biochemical testing. The ability to screen for severe, time critical neonatal conditions before a newborn is discharged from the hospital has the potential to improve the standard of care for newborns. This development could be especially important for countries that do not have a centralized public health laboratory or testing facility and thus do not collect newborn DBS samples.