The incidence of inherited metabolic disorders in the West Midlands, UK

Sanderson, Simon; Green, Anne; Preece, Mary Anne; Burton, Hilary

doi:10.1136/adc.2005.091637

Cited by 209 publications

(160 citation statements)

References 15 publications

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“…In another review of cases of IEM diagnosed in the West Midlands of the United Kingdom (where approximately 11 percent of the population is from black and ethnic minority groups) during 1999 to 2003 found that the incidence of organic acidemias was 12.6 per 100,000 [40].…”

Section: International Studiesmentioning

confidence: 99%

Organic Acidurias: An Updated Review

Vaidyanathan

Narayanan²,

Vasudevan³

2011

Ind J Clin Biochem

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Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.

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Section: International Studiesmentioning

confidence: 99%

Organic Acidurias: An Updated Review

Vaidyanathan

Narayanan²,

Vasudevan³

2011

Ind J Clin Biochem

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“…Both types occur equally often (Dodds 2001). Among the different groups of inborn errors of metabolism, MD is the most frequent with an incidence of approximately 1:5,000 (Sanderson et al 2006;Smeitink et al 2006;Schaefer et al 2004) but likely to be much higher due to under diagnosis (Edmond 2009). Currently, there is no effective pharmacological treatment.…”

Section: Introductionmentioning

confidence: 99%

Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

Noorda

Achterberg

Hooft³

et al. 2012

JIMD Reports

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“…Some of the genetic metabolic disorders are related to pathways of amino acid metabolism, fatty acid oxidation metabolism, organic acid metabolism, glycogen storage, and lysosomal storage. Furthermore, there are other genetic conditions that are not IMDs, such as congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), sickle cell disease (SCD), glucose-6-phosphate dehydrogenase deficiency (4,6,7 ), and severe combined immunodeficiency (SCID) (see Table 1 in the Data Supplement that accompanies the online version of this review at http://www.clinchem.org/content/vol62/ issue5). For the purposes of this review, all these conditions (IMDs and non-IMDs) will be referred to as IMDs.…”

Section: Genetic and Metabolic Disordersmentioning

confidence: 99%

“…The aim is to provide early diagnosis and to prevent or ameliorate the long-term consequences of the disease for infants who are suffering from a treatable metabolic/ genetic, endocrine, or hematologic condition (1,2 ). Fur-thermore, NBS programs have an expanded role in follow-up, diagnosis, and treatment (3)(4)(5)(6)(7)(8)(9)(10).…”

Section: Purpose Of Nbsmentioning

confidence: 99%

Challenges for Worldwide Harmonization of Newborn Screening Programs

2016

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BACKGROUND Inherited metabolic disorders (IMDs) are caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, hundreds of IMDs have been identified. Many of these diseases are potentially fatal conditions that are not apparent at birth. Newborn screening (NBS) programs involve the clinical and laboratory examination of neonates who exhibit no health problems, with the aim of discovering those infants who are, in fact, suffering from a treatable condition. CONTENT In recent years, the introduction of tandem mass spectrometry has allowed the expansion of screening programs. However, this expansion has brought a high degree of heterogeneity in the IMDs tested among different NBS programs. An attempt to harmonize the metabolic conditions recommended to be screened has been carried out. Two uniform screening panels have been proposed in the US and European Union, by knowledgeable organizations. Here, we review current evidence-based processes to assess and expand NBS programs. We also discuss the IMDs that have recently been introduced in some screening programs, such as severe combined immunodeficiencies, lysosomal storage disorders, and adrenoleukodystrophy. SUMMARY NBS programs have been an established public health function for more than 50 years to efficiently and cost-effectively identify neonates with severe conditions. However, NBS is not yet optimal. This review is intended to elucidate the current degree of harmonization of NBS programs worldwide as well as to describe the major controversial points and discuss the multiple challenges that must be confronted in expanded NBS strategies.

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The incidence of inherited metabolic disorders in the West Midlands, UK

Cited by 209 publications

References 15 publications

Organic Acidurias: An Updated Review

Organic Acidurias: An Updated Review

Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

Challenges for Worldwide Harmonization of Newborn Screening Programs

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