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The Practice of Metabolic Medicine
Published in Michael M. Rothkopf, Jennifer C. Johnson, Optimizing Metabolic Status for the Hospitalized Patient, 2023
Michael M. Rothkopf, Jennifer C. Johnson
Adult patients with inborn errors of metabolism are another group of patients in this category. Sometimes, the diagnosis is known, having been diagnosed in early childhood. These patients are primarily seeking an adult specialist to follow up with so they can stop attending a pediatric metabolic clinic. Others have mild forms of an inborn error, which has defied precise diagnosis previously. We have picked up a number of glycogen storage and mitochondrial diseases by keeping an open mind with these patients.
Physical examination and investigations
Published in Ajay Sharma, Helen Cockerill, From Birth to Five Years, 2021
The neonatal screening programme in the UK (Guthrie test) currently includes seven Inborn errors of metabolism (IEMs): phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria (pyridoxine unresponsive) and congenital hypothyroidism. Look for the following features suggestive of a metabolic cause: failure to thrive, organomegaly, coarse features, a history suggestive of metabolic decompensation, family history of consanguinity, neonatal deaths, life-threatening episodes in siblings and neuroimaging findings, such as abnormal myelination or striatal necrosis. Amino acids, urine organic acids, mucopolysaccharides, urates, biotinidase, urine purine (consider the most appropriate investigations in consultation with a paediatric metabolic specialist).A useful online information source about treatable inborn errors of metabolism is available from http://www.treatable-id.org.
Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
Proteomics is the study of the complete protein profile expressed in an organism. The word proteomics was coined in 1995 by Marc Wilkins [2, 3]. Currently, an increased emphasis is placed on the application of proteomics techniques like MS in the diagnosis of various diseases [4]. Inborn errors of metabolism constitute an important group of genetic pediatric disorders. Even though they are individually rare, collectively they constitute a group of diseases, with a projected incidence of 1 in 1500 [5].
The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism
Published in Expert Opinion on Orphan Drugs, 2020
Whitney S. Thompson, Gourish Mondal, Caitlin J. Vanlith, Robert A. Kaiser, Joseph B. Lillegard
Current therapies for inborn errors of metabolism range from ineffective to sustaining, but none are curative, and most only delay significant disease manifestation while imparting onerous lifestyle inhibitions and costs on patients that challenge the resolute compliance required for efficacy. Gene therapy is a bright future for the treatment of many diseases, including inborn errors of metabolism. However, these diseases have unique contexts, and there is no single approach to address them all. Favored modalities will have to consider the anatomical sites affected by the disease (within the liver or remote/systemic), the potential for immunologic activation by novel surface or secreted proteins, and the inherent or artificial nature of the selection applied to corrected cells. Furthermore, there may be multiple causative alleles within a single disease indication that require unique modifications to any proposed gene-targeted therapy to be applicable to an entire patient population. Refinements to current methods and entirely new platforms are constantly being developed and investigated to address these issues. Until then, patients will have to continue to endure lifestyle compromises and uncertain futures, with the possibility of needing liver transplants, reduced quality of life, and shortened life spans. These needs will continue to push innovation in gene therapy until science produces true cures for these patients.
Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver function test and lipid profiles
Published in International Journal of Developmental Disabilities, 2020
Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Fazli Rabbi Awan
Inborn errors of metabolism are rare genetic disorders, and several of them cause intellectual disability in children. Therefore, in this study, we have investigated clinically important biochemical parameters in healthy and suspected IEM children with intellectual disability in Pakistan to find out any association among such parameters with the intellectual disability. In our collected samples, we have found that several biochemical parameters were significantly different in patient samples as compared to healthy samples. Elevated level of ALP has already been reported in different metabolic conditions like obesity and Wilson disease patients. In this study, levels of ALP, ASAT, ALAT, albumin, hemoglobin, and uric acid were found significantly different as compared to healthy children. Some of the intellectually disabled patients in this study also had high levels of cholesterol and triglyceride and are suspected for hyperlipidemia. Consequently, intellectually disabled patients might have been associated with the high levels of above mentioned parameters, but further research is needed to confirm this finding. Moreover, advance analytical tools like HPLC, GC, GC-MS, LC-MS/MS, PCR, and DNA sequencing etc. are needed for the earlier diagnosis and treatment of IEMs in Pakistani patients. Finally, this study will help to initiate a NBS program in Pakistan for the screening of different inherited metabolic disorders, which can help the affected patients to live a healthy life.
Contemporary surgical management of drug-resistant focal epilepsy
Published in Expert Review of Neurotherapeutics, 2020
Jasmina R. Milovanović, Slobodan M. Janković, Dragan Milovanović, Dejana Ružić Zečević, Marko Folić, Marina Kostić, Goran Ranković, Srđan Stefanović
If epilepsy surgery is to be planned, precise etiology of epilepsy observed in the patients should be elucidated. Causes of epilepsy could be classified to six categories according to prevailing underlining pathology: metabolic, genetic, infectious, immune, developmental anomalies, and unknown [6]. However, not all of them are amenable for surgical treatment, especially when pathological process either causes multiple focal lesions or would continue even after surgery, making new focal lesions. Disorders of metabolic pathways with piling up or deficiency of certain intermediate metabolic products may disturb membrane potential of neurons and result with seizures. The disorders are usually linked to an inborn error of metabolism, caused by a genetic defect that was inherited. Some of the most frequent metabolic causes of epilepsy are Menkes syndrome (decreased ingress of copper to neurons due to deficiency of a membrane transport protein), biotinidase deficiency (resulting with biotin deficit) [7], neuronal ceroid lipofuscinosis (accumulation of neuronal and extra neuronal lipopigments) [8], sphingolipidoses (lysosomal lipid storage disorders), mitochondrial disorders (mitochondrial dysfunction), sulfite oxidase deficiency (accumulation of sulfur-containing amino acids in neurons) [9], and serine biosynthesis defects (causing serine deficiency in neurons, so many functional proteins cannot be synthesized).