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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.
Introduction to mucopolysaccharidoses
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Therapy has been successful via bone marrow transplantation in some of these diseases. Umbilical cord transplantation has had limited success and neurologic outcome has not been favorable for either. Earlier diagnosis has been emphasized [19, 20] as critical for success of ERT. Enzyme replacement therapy has been of mixed efficacy, but certainly there are effects on some features of the diseases. A variety of supportive measures, such as surgical fusion to stabilize a hypoplastic odontoid can be of great benefit.
Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Fabry disease is X-linked with partial manifestation in some females. Cardiac involvement, characteristic skin lesions and painful neuropathy are other predominant features, in addition to nephropathy and also ocular involvement. Diagnosis of the affected hemizygous male can employ enzyme assay (α-galactosidase), but the detection of heterozygous carrier females (whether or not they manifest clinical features of the disorder) is often best achieved by molecular methods. Prenatal diagnosis is also available by molecular diagnostics or by enzyme assay (for a male fetus). Enzyme replacement therapy is available (and useful) for affected males and for females who manifest complications of the condition.
Preclinical and clinical developments in enzyme-loaded red blood cells: an update
Published in Expert Opinion on Drug Delivery, 2023
Marzia Bianchi, Luigia Rossi, Francesca Pierigè, Sara Biagiotti, Alessandro Bregalda, Filippo Tasini, Mauro Magnani
Design and development of new therapeutic strategies is mandatory to improve the outcome of children affected by GAMT-deficiency. An attractive therapeutic option is represented by enzyme replacement therapy, supplying the cells with the missing or defective enzyme. A breakthrough came in 2022 when Khoja and coworkers developed an Adeno-Associated Virus (AAV)-based gene therapy approach for GAMT deficiency to overcome the limitations of metabolic treatment regimens [19]. Given the low prevalence of this pathology [111,112], the authors used for their studies a transgenic GAMT-knockout mouse model, biochemically mimicking the metabolic profile of patients with GAMT deficiency, i.e. markedly elevated, and markedly reduced GAA and Cr levels, respectively [113]. A single intravenous dose of AAV expressing a human codon-optimized GAMT sequence under a liver-specific promoter resulted in long-term hepatic GAMT expression with control of GAA concentration and increased Cr production in plasma, urine, and tissues of the murine model, accompanied by a significant improvement on the behavioral phenotype [19].
Chest wall volumes, diaphragmatic mobility, and functional capacity in patients with mucopolysaccharidoses
Published in Disability and Rehabilitation, 2023
Bárbara Bernardo Figueirêdo, Cyda Reinaux, Helen Fuzari, António Sarmento, Juliana Fernandes, Armèle Dornelas de Andrade
A total of 68 individuals (34 with MPS and 34 matched-healthy) were evaluated. Regarding MPS individuals, 79.41% (n = 26, four adults, nine adolescents, and 13 children) had MPS type VI, 14.70% (n = 5, two adults and three adolescents) had MPS type IV-A, and 5.89% (n = 2, adults) MPS type II. Adolescents and adults were undergoing enzyme replacement therapy for a longer time than children (p = 0.03 and p = 0.02, respectively). Body composition was different between groups only when expressed in kilograms (p < 0.01). Physical capacity, psychosocial, and social relationships were the most affected domains regarding quality of life in MPS patients compared with healthy subjects (Table 1). None of the patients reported macroglossia and GAG infiltration in the oropharynx and trachea.
Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder
Published in The World Journal of Biological Psychiatry, 2023
The results of our study may contribute significantly to the treatment of BAD. Enzyme replacement therapy (ERT) and haematopoietic cell transplant (HCT) treatments have been applied in some glycoproteinoses. Haematopoietic cells, in particular, pass through the blood-brain barrier and distribute functional enzymes to the defect site, resulting in reduced CNS pathology (Capotondo et al. 2012). HCT treatment, particularly when applied at early ages, reduces neurocognitive loss and maintains life quality, prolonging survival (Naumchik et al. 2020). A study on Fabry disease revealed that enzyme replacement therapy was beneficial especially when applied with modified α-NAGAL (Tajima et al. 2009). In light of these results, we believe that further studies on HCT and ERT will pave the way for new treatments in terms of α-NAGAL deficiency in BAD. Future research that includes new studies of larger patient groups and different clinical data and techniques is necessary to support our results. Our study is the first of its kind in shedding light on the aetiological approach and innovations necessary in the treatment of BAD. Treatment methods utilising HCT and ERT are promising in the diagnosis of the α-NAGAL deficiency by dint of practical screening tools for testing purposes that can be applied at early stages of life, even during gestation.