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Diabetes Mellitus, Obesity, Lipoprotein Disorders and other Metabolic Diseases
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Lactose in milk is a disaccharide containing galactose and glucose. After ingestion, it is hydrolyzed by intestinal lactase and the absorbed galactose is converted to glucose in the liver (Figure 11.23). Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classic galactosaemia with autosomal recessive inheritance.
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
In developed countries, galactosemia is currently detected by programs of neonatal screening in which the transferase enzyme, or galactose content, is assayed in blood. Early diagnosis and compliance with dietary treatment obviate the classic manifestations of the disease. Nevertheless, we continue to learn from experience, as late complications are recognized in patients who have had early diagnosis and exemplary management. These have included abnormalities in language development [7, 8] and ovarian failure [9–11].
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].
Effect of hematocrit, galactose and ascorbic acid on the blood glucose readings of three point-of-care glucometers
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2022
Fawaz Albloui, James John, Osama Alghamdi, Faisal Alseraye, Abdullah Alqahtani, Waleed Tamimi, Abdullah Albloshi, Fahad M. Aldakheel, Ayesha Mateen, Rabbani Syed
Several factors can affect glucometer results (Table 1). Hematocrit (Hct) count can vary depending on gender and age. Low Hct can be caused by several factors, for example, anemia and sickle cell anemia, malnutrition, hemorrhage and leukemia [6,8,12]. Hct can often increase because of dehydration, certain bone marrow disorders and tumors, lung diseases and living at high altitudes. Generally, glucometers are optimized to normal Hct levels, which are approximately 40–50%. Erythrocytes effectively act as a physical barrier altering the diffusion rate of glucose in test strip chemistry; therefore, Hct concentration is proportional to the rate of the reaction in the test strip and inversely proportional to the meter signal [13], i.e. Hct above the normal range will give a lower glucose reading, while Hct below the normal range will give a higher glucose reading. Galactose is found in many herbs, foods and nutritional supplements and is also used in diagnostic tests. This type of sugar can interfere with certain blood glucometers [14]. Incorrect glucose readings mask hypoglycemia and give false positives for hyperglycemia. Inaccurate glucose readings were reported in some patients who received products containing galactose, maltose and xylose and were treated with aggressive insulin therapy as a result [15]. In POCGs, using test strips containing the enzymes glucose dehydrogenase or glucose dye oxidoreductase can lead to erroneous measurements of glucose and consequently produce a falsely elevated glucose reading [16].
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.