Metabolismrefers to all the chemical reactions taking place in the body to convert or use energy. A few major examples ofmetabolisminclude: Breaking down the carbohydrates, proteins, and fats in food to release energy. Transforming excess nitrogen into waste products excreted in urine. ...
Inherited disorders, metabolic disorders, rare diseasesM411RECURRENT SEIZURES IN A CHILD DUE TO HYPOKETOTIC HYPOGLYCAEMIAB. Chale-matsau1, T. Pillay11Department of Chemical Pathology, Faculty of Health Sciences, School of Medicine, University of Pretoria & National HealthLaboratory Services, Tshwane ...
Many of these metabolic disorders have been called polygenic or multifactorial even though it is not usually known how many genetic loci are involved or how they interact with environmental factors. Diabetes mellitus and essential hypertension are examples though the genetics of both of these disease ...
However, there are a few examples of the successful use of PROMs in rare diseases, particularly in academia, by PROM methodologists, and in collaboration with patient organizations [6, 20]. There is a need for PROMs in rare inherited metabolic disorders (IMDs), a group of more than 1000 ...
Examples of genetic disorders caused by such mutations are summarised in Table 1. Table 1. Genetic disorders which can cause cholestasis in neonates and infants. Other non-genetic causes of cholestasis include hypopituitarism, biliary sludge, preterm birth, parenteral feeding and infection. Some ...
Keywords: newborn screening;treatability;treatable;Wilson and Junger criteria;inborn errors of metabolism;inherited metabolic disorders;next-generation sequencing
About PlumX Metrics PlumX Metrics provide insights into the ways people interact with individual pieces ofresearch output (articles, conference proceedings, book chapters, and many more) in the online environment. Examples include, when research is mentioned in the news or is tweeted about, Collective...
These examples sug- gested that well-balanced pools of mitochondrial nucleotides are a prerequisite for mtDNA replication. In contrast to nuclear INHERITED MITOCHONDRIAL DNA DEPLETION 155 DNA, mtDNA is replicating throughout the cell cycle, requir- ing stable supply of deoxyribonucleoside triphosphate (...
Examples of reduced penetrance in autosomal dominant disorders include, congenital cataract (GJA3 gene) [11], different types of retinitis pigmentosa (PRPF8 & PRPF31) [12], and long QT syndrome [13]. Examples of autosomal recessive disorders include Cys 282tyr (rs1800562), mutation in ...
These examples confirm that the location of the mutation has a less significant influence on phenotypic outcome than the predicted effect of the mutation on HPRT protein conformation and residual enzyme function. A few of the less severely affected cases with deletions, insertions, or other ...