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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
Enzyme deficiency: Variegate porphyria: protoporphyrinogen oxidaseHereditary coproporphria: coproporphyrinogen oxidase
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
In conditions associated with an enzyme deficiency, methods have been developed to provide systemic delivery of the missing enzyme to the patient. Enzyme replacement therapy for lysosomal storage diseases, such as Gaucher disease, Fabry disease, Hurler syndrome, and Pompe disease, has been very successful. Enzyme replacement therapy for other enzyme deficiency disorders is under development. Another approach has been to decrease the substrate for the deficient enzyme by giving a drug that inhibits an upstream enzyme in the pathway, thus decreasing accumulation of the toxic compound. This type of drug treatment has been approved for Gaucher disease and is being developed for other conditions.
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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
This question is also meant to confuse and test the confidence of the candidate in what they have learnt. Glucose-6-phosphate dehydrogenase deficiency leads to reduced glutathione levels in red cells, making them prone to haemolysis. It is an X-linked disorder and symptoms may vary from none to acute haemolysis requiring exchange transfusion in the neonate. Treatment is avoidance of stressors that may trigger haemolysis, such as dietary factors (e.g. fava beans), drugs (e.g. quinolones) or severe infections. It is the most common enzyme deficiency in the world. Von Gierke’s disease is caused by a deficiency in glucose-6-phosphatase. It is a glycogen storage disorder. The lack of the enzyme leads to the cells’ inability to convert glucose-6-phosphate to glucose. Alternative metabolic pathways convert the glucose precursor to lactic acid, the build-up of which is possibly responsible for the resultant retarded growth and osteoporosis. The glucose-6-phosphate may also be converted back into glycogen, the build-up of which in the liver causes hepatomegaly. It is a rare disorder.
Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency
Published in Expert Opinion on Orphan Drugs, 2022
Pilar Giraldo, Laura López de Frutos, Jorge J Cebolla
A fundamental aspect is that the most frequent damaging variant in the LIPA gene is known, making a quick genetic confirmation possible in most of the cases. Consequently, some studies have been based on the identification of this variant as a screening test. The early identification of enzyme deficiency allows the early application of enzyme replacement therapy in children, to avoid the serious complications of the disease when lipids are deposited in target organs such as the liver, intestinal wall, and cardiovascular system. The objective of searching for patients with attenuated forms of the disease poses difficulties due to the nonspecific manifestations that are superimposable to those observed in nonalcoholic liver diseases, viral hepatitis, autoimmune hepatitis, Wilson’s disease, hemochromatosis, alpha-1-antitrypsin deficiency, and other diseases [54,113,158,159].
Body composition and 6 minute walking ability in late-onset pompe disease patients after 9 years of enzyme replacement therapy
Published in International Journal of Neuroscience, 2022
Gerasimos Terzis, Georgios Papadimas, Argyro Krase, Eleni Kontou, Ioannis Arnaoutis, Constantinos Papadopoulos
Data were retrieved from the regular examination files of three male and three female late-onset Pompe disease patients of our center. Adult, ambulatory patients receiving regular intravenous ERT infusions were included in this study. Patients with diseases that could potentially affect bone mineral density (e.g. primary hyperparathyroidism, rheumatologic disorders) and patients using medications known to affect bone mass (e.g. corticosteroids, biphosphonates) were excluded. Initial diagnosis of Pompe disease was confirmed in all cases by deficient GAA activity in cultured fibroblasts and mutational analysis of genomic DNA isolated from peripheral blood leukocytes. All subjects received ERT with alpha-glucosidase (Myozyme, Genzyme, USA) every fourteen days with 20 mg/kg, continually for 9 years. No serious adverse reactions were observed due to the ERT throughout the 9 year period. The initial characteristics of the patients, including the corresponding enzyme deficiency and gene point mutations, are presented in Table 1. None of the patients required ventilation support at study entry. The experimental protocol was previously approved by the Ethics Committee of the Eginition Hospital, of the Medical School of the National and Kapodistrian University of Athens, Greece. All patients gave their written informed consent for inclusion in this study.
Current state of developing advanced therapies for rare diseases in the European Union
Published in Expert Opinion on Orphan Drugs, 2020
Tingting Qiu, Yitong Wang, Monique Dabbous, Eve Hanna, Ru Han, Shuyao Liang, Mondher Toumi
A large number of ATMPs were used for the treatment of inherited metabolic disorders that mostly could be alleviated only by adherence to strict diet management. Enzyme replacement therapy (ERT) was applied for enzyme deficiency diseases, such as mucopolysaccharidos (MPS), toward supplying the functional enzymes to accelerate the degradation of accumulated toxic substances. Whereas ERT was associated with persistent complications as well as the risk of developing anti-drug antibodies to ERT, which could significantly affect clinical outcomes [22]. The advantages of gene therapies for metabolic diseases included their ability to deliver normal genes to generate therapeutic enzyme in sufficient quantities through one-time administration and their precise localization and rapid delivery to affected organs, including the central nervous system (CNS) [23].