Inborn errors of metabolism in the 21st century: past to present

Arnold, Georgianne L.

doi:10.21037/atm.2018.11.36

Cited by 40 publications

(34 citation statements)

References 27 publications

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“…Causative therapies such as dietary treatment, substrate reduction therapy, cofactor treatment, enzyme replacement therapy, and transplantation (liver, kidney, bone marrow, hematopoietic stem cell therapy) are available for some IMDs. However, for most IMDs therapy is still symptomatic and does not sufficiently change the course of the disease [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

U-IMD: the first Unified European registry for inherited metabolic diseases

Opladen

Gleich

Kožich

et al. 2021

Orphanet J Rare Dis

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Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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Section: Introductionmentioning

confidence: 99%

U-IMD: the first Unified European registry for inherited metabolic diseases

Opladen

Gleich

Kožich

et al. 2021

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Causative therapies such as dietary treatment, substrate reduction therapy, cofactor treatment, enzyme replacement therapy, and transplantation (liver, kidney, bone marrow, hematopoietic stem cell therapy) are available for some IMDs. However, for most IMDs therapy is still symptomatic and does not su ciently change the course of the disease (Arnold 2018).…”

Section: Introductionmentioning

confidence: 99%

U-IMD: The first Unified European registry for Inherited Metabolic Diseases

Opladen

Gleich

Kožich

et al. 2021

Preprint

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Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results : In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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“…Currently, more than 2000 cases of IEM have been identified and described. [1] Factors that influence the prevalence of the disorder(s) vary greatly amongst countries and social groups:…”

Section: Introductionmentioning

confidence: 99%

Reference intervals of amino acid for newborns in North Asia: Diagnosing Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Bairova

Bel’skikh

Atalyan

et al. 2021

Preprint

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Aim. To establish reference intervals for blood amino acids in healthy newborns of North Asia measured by liquid chromatography tandem mass spectrometry and evaluate their differences from respective reference values for newborns from other populations. Objectives. A cross-sectional study of 381 healthy newborns was conducted. De-identified dried blood spots annotated by age, birth-weight, and sex were obtained from 381 healthy newborns aged 0-7 days. Data was collected from April to May of 2020. Methods. Dried blood spots collected from filtered paper were used to analyze and measure of 13 derivatized amino acids using LC-MS/MS method. Nonparametric statistical approaches were used to generate 2.5th-97.5th percentile distributions for newborns in North Asia in accordance with CLSI EP28-A3с. Results. Reference intervals (RI) for phenylalanine, tyrosine, citrulline, alanine, ornithine, proline in North Asian newborns differ slightly from those of newborns in other countries around the world. This allows for the use of universal RI in the diagnosis of congenital metabolic disorders of the indicated amino acids (AA) in different populations around the world. The RI for branched-chain essential AA (valine, leucine, and isoleucine are metabolic criteria for maple syrup disease) are higher in North Asian infants as compared to infants in other populations. In addition, the RI for arginine, aspartic acid, and glutamic acid in North Asian newborns are higher than in newborns in other countries around the world. In our study, the RI for methionine in newborns were lower than in many countries worldwide [McHugh D, 2011]. For optimal clinical practice, RI for certain AA in newborns (valine, leucine, isoleucine, methionine, arginine, aspartic acid, glutamic acid) should be determined for specific populations - further augmenting the diagnosis of inborn errors of metabolism.

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Inborn errors of metabolism in the 21st century: past to present

Cited by 40 publications

References 27 publications

U-IMD: the first Unified European registry for inherited metabolic diseases

U-IMD: the first Unified European registry for inherited metabolic diseases

U-IMD: The first Unified European registry for Inherited Metabolic Diseases

Reference intervals of amino acid for newborns in North Asia: Diagnosing Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

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