An international classification of inherited metabolic disorders (<scp>ICIMD</scp>)

Ferreira, Carlos R.; Rahman, Shamima; Keller, Markus A.; Zschocke, Johannes

doi:10.1002/jimd.12348

Cited by 189 publications

(138 citation statements)

References 26 publications

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“…Only N-linked protein glycosylation defects with autosomal recessive inheritance patterns (27/32) were included in the analysis. The list was based on the ICIMD database ( Ferreira et al, 2021 ). We extracted allele frequencies for different populations from The Genome Aggregation Database (gnomAD v2.1.1) ( Karczewski et al, 2020 ), encompassing variant frequency information from 141,456 individuals.…”

Section: Methodsmentioning

confidence: 99%

“…Congenital disorders of glycosylation (CDG) are a growing group of metabolic diseases with at least 137 defects (Ondruskova et al, 2021). According to the International Classification of Inherited Metabolic Disorders (ICIMD) database, 32 are classified as N-linked protein glycosylation defects (Ferreira et al, 2021). Based on population allele frequencies, the expected birth prevalence of the most common PMM2-CDG could be as high as 1:20,000 (Schollen et al, 2000), and in later reports, 1:77,000 to 1:286,000 (Vals et al, 2018;Yildiz et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

et al. 2021

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Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000. In contrast, the prevalence of other CDG types remains unknown. This study aimed to analyze the estimated prevalence of different N-linked protein glycosylation disorders. We extracted allele frequencies for diverse populations from The Genome Aggregation Database (gnomAD), encompassing variant frequency information from 141,456 individuals. To identify pathogenic variants, we used the ClinVar database as a primary source. High confidence loss-of-function variants as defined by the LOFTEE algorithm were also classified as pathogenic. After summing up population frequencies for pathogenic alleles, estimated disease birth prevalence values with confidence intervals were calculated using the Bayesian method. We first validated our approach using two more common recessive disorders (cystic fibrosis and phenylketonuria) by showing that the estimated prevalences calculated from population allele frequencies were in accordance with previously published epidemiological studies. Among assessed 27 autosomal recessive N-glycosylation disorders, the only disease with estimated birth prevalence higher than one in 100,000 was PMM2-CDG (in both, all gnomAD individuals and those with European ancestry). The combined prevalence of 27 different N-glycosylation disorders was around one in 22,000 Europeans but varied considerably across populations. We will show estimated prevalence data from diverse populations and explain the possible pitfalls of this analysis. Still, we are confident that these data will guide CDG research and clinical care to identify CDG across populations.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

et al. 2021

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“…Genetically, the mitochondrial diseases associated with the OxPhos system are split into two broad genetic categories: disorders due to mutations in the mtDNA, observing the rules of mitochondrial genetics; disorders due to mutations in the nDNA, transmitted as a Mendelian trait [ 6 , 85 ]. To date, mutations in both mitochondrial and nuclear genomes have been reported to cause mitochondrial disease manifesting with characteristic leukoencephalopathy and other clinical phenotypes either multisystemic or with single tissue involvement [ 86 , 87 , 88 ].…”

Section: Structure Assembly and Disorders Of Bioenergetics Complexesmentioning

confidence: 99%

Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

Zanfardino

Doccini

Santorelli

et al. 2021

IJMS

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Oxidative phosphorylation (OxPhos) is the basic function of mitochondria, although the landscape of mitochondrial functions is continuously growing to include more aspects of cellular homeostasis. Thanks to the application of -omics technologies to the study of the OxPhos system, novel features emerge from the cataloging of novel proteins as mitochondrial thus adding details to the mitochondrial proteome and defining novel metabolic cellular interrelations, especially in the human brain. We focussed on the diversity of bioenergetics demand and different aspects of mitochondrial structure, functions, and dysfunction in the brain. Definition such as ‘mitoexome’, ‘mitoproteome’ and ‘mitointeractome’ have entered the field of ‘mitochondrial medicine’. In this context, we reviewed several genetic defects that hamper the last step of aerobic metabolism, mostly involving the nervous tissue as one of the most prominent energy-dependent tissues and, as consequence, as a primary target of mitochondrial dysfunction. The dual genetic origin of the OxPhos complexes is one of the reasons for the complexity of the genotype-phenotype correlation when facing human diseases associated with mitochondrial defects. Such complexity clinically manifests with extremely heterogeneous symptoms, ranging from organ-specific to multisystemic dysfunction with different clinical courses. Finally, we briefly discuss the future directions of the multi-omics study of human brain disorders.

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“…Inborn errors of metabolism (IEM) are a heterogeneous group of 1,450 disorders that are individually rare to ultra-rare [1], but relatively common as a group (estimated birth prevalence 1:2,000 [2]). Although genetic by definition, it is a misconception that IEMs only manifest at young age.…”

Section: Introductionmentioning

confidence: 99%

When to Consider an Inborn Error of Metabolism in Adults?

Brouwers

2021

J Endocrinol Metab

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Inborn errors of metabolism (IEM) are a group of disorders that are often erroneously assumed to be the playing field of pediatricians only. This misconception combined with the rare nature of IEMs explains why there is often a serious delay in the diagnosis of an adult-onset IEM, which can have detrimental consequences. This review provides potential strategies to overcome this diagnostic delay. The most promising consists of stimulating critical clinical reasoning and creating awareness of the process that leads to the diagnosis of a rare disease.

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An international classification of inherited metabolic disorders (ICIMD)

Cited by 189 publications

References 26 publications

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

When to Consider an Inborn Error of Metabolism in Adults?

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