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[PMID]:29233882
[Au] Autor:Seranova E; Connolly KJ; Zatyka M; Rosenstock TR; Barrett T; Tuxworth RI; Sarkar S
[Ad] Endereço:Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, U.K.
[Ti] Título:Dysregulation of autophagy as a common mechanism in lysosomal storage diseases.
[So] Source:Essays Biochem;61(6):733-749, 2017 12 12.
[Is] ISSN:1744-1358
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus for signalling pathways responsive to a variety of factors, such as growth, nutrient availability, energetic status and cellular stressors. Lysosomes are also the terminal degradative organelles for autophagy through which macromolecules and damaged cellular components and organelles are degraded. Autophagy acts as a cellular homeostatic pathway that is essential for organismal physiology. Decline in autophagy during ageing or in many diseases, including late-onset forms of neurodegeneration is considered a major contributing factor to the pathology. Multiple lines of evidence indicate that impairment in autophagy is also a central mechanism underlying several lysosomal storage disorders (LSDs). LSDs are a class of rare, inherited disorders whose histopathological hallmark is the accumulation of undegraded materials in the lysosomes due to abnormal lysosomal function. Inefficient degradative capability of the lysosomes has negative impact on the flux through the autophagic pathway, and therefore dysregulated autophagy in LSDs is emerging as a relevant disease mechanism. Pathology in the LSDs is generally early-onset, severe and life-limiting but current therapies are limited or absent; recognizing common autophagy defects in the LSDs raises new possibilities for therapy. In this review, we describe the mechanisms by which LSDs occur, focusing on perturbations in the autophagy pathway and present the latest data supporting the development of novel therapeutic approaches related to the modulation of autophagy.
[Mh] Termos MeSH primário: Autofagia/fisiologia
Doenças por Armazenamento dos Lisossomos/metabolismo
[Mh] Termos MeSH secundário: Animais
Autofagia/genética
Seres Humanos
Doenças por Armazenamento dos Lisossomos/genética
Lisossomos/metabolismo
Esfingolipidoses/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE
[do] DOI:10.1042/EBC20170055


  2 / 346 MEDLINE  
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[PMID]:28857617
[Au] Autor:Arenz C
[Ad] Endereço:Institute for Chemistry, Humboldt Universität zu Berlin, Brook-Taylor-Str. 2, 12489 Berlin, Germany.
[Ti] Título:Recent advances and novel treatments for sphingolipidoses.
[So] Source:Future Med Chem;9(14):1685-1698, 2017 Sep.
[Is] ISSN:1756-8927
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses are genetically inherited diseases in which genetic mutations lead to functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. As a consequence, nondegradable lipids enrich in the lysosomes and lead to fatal pathological phenotypes in affected individuals. In this review, different drug-based treatment strategies including enzyme replacement therapy and substrate reduction therapy are discussed. A special focus is on the concept of pharmacological chaperones, one of which recently acquired clinical approval within the EU. On the basis of the different limitations for each approach, possible future directions of research are discussed.
[Mh] Termos MeSH primário: Enzimas/uso terapêutico
Esfingolipidoses/tratamento farmacológico
[Mh] Termos MeSH secundário: Terapia de Reposição de Enzimas
Enzimas/genética
Enzimas/metabolismo
Doença de Fabry/tratamento farmacológico
Doença de Gaucher/tratamento farmacológico
Glucosilceramidase/genética
Glucosilceramidase/metabolismo
Glucosilceramidase/uso terapêutico
Seres Humanos
Lisossomos/metabolismo
Proteínas Recombinantes/biossíntese
Proteínas Recombinantes/isolamento & purificação
Proteínas Recombinantes/uso terapêutico
Esfingolipidoses/genética
Esfingolipidoses/patologia
Esfingolipídeos/metabolismo
alfa-Galactosidase/genética
alfa-Galactosidase/metabolismo
alfa-Galactosidase/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Enzymes); 0 (Recombinant Proteins); 0 (Sphingolipids); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.4155/fmc-2017-0065


  3 / 346 MEDLINE  
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[PMID]:28089753
[Au] Autor:Mirzaian M; Wisse P; Ferraz MJ; Marques ARA; Gaspar P; Oussoren SV; Kytidou K; Codée JDC; van der Marel G; Overkleeft HS; Aerts JM
[Ad] Endereço:Dept. Medical Biochemistry, Leiden Institute of Chemistry (LIC), Leiden University, The Netherlands.
[Ti] Título:Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical C-encoded internal standards.
[So] Source:Clin Chim Acta;466:178-184, 2017 Mar.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Free sphingoid bases (lysosphingolipids) of primary storage sphingolipids are increased in tissues and plasma of several sphingolipidoses. As shown earlier by us, sphingoid bases can be accurately quantified using UPLC-ESI-MS/MS, particularly in combination with identical C-encoded internal standards. The feasibility of simultaneous quantitation of sphingoid bases in plasma specimens spiked with a mixture of such standards is here described. The sensitivity and linearity of detection is excellent for all examined sphingoid bases (sphingosine, sphinganine, hexosyl-sphingosine (glucosylsphingosine), hexosyl -sphingosine (lactosylsphingosine), hexosyl -sphingosine (globotriaosylsphingosine), phosphorylcholine-sphingosine) in the relevant concentration range and the measurements show very acceptable intra- and inter-assay variation (<10% average). Plasma samples of a series of male and female Gaucher Disease and Fabry Disease patients were analyzed with the multiplex assay. The obtained data compare well to those earlier determined for plasma globotriaosylsphingosine and glucosylsphingosine in GD and FD patients. The same approach can be also applied to measure sphingolipids in the same sample. Following extraction of sphingolipids from the same sample these can be converted to sphingoid bases by microwave exposure and subsequently quantified using C-encoded internal standards.
[Mh] Termos MeSH primário: Esfingolipidoses/sangue
Esfingolipídeos/análise
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Isótopos de Carbono/normas
Cromatografia Líquida de Alta Pressão
Doença de Fabry/sangue
Feminino
Doença de Gaucher/sangue
Seres Humanos
Masculino
Padrões de Referência
Esfingolipídeos/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carbon Isotopes); 0 (Sphingolipids)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170826
[Lr] Data última revisão:
170826
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170117
[St] Status:MEDLINE


  4 / 346 MEDLINE  
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[PMID]:27533120
[Au] Autor:Polo G; Burlina AP; Kolamunnage TB; Zampieri M; Dionisi-Vici C; Strisciuglio P; Zaninotto M; Plebani M; Burlina AB
[Ti] Título:Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
[So] Source:Clin Chem Lab Med;55(3):403-414, 2017 Mar 01.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as storage compounds in several sphingolipidoses, including Gaucher, Fabry and Niemann-Pick diseases. To date, different methods have been developed to measure each individual lysosphingolipid in plasma. This report describes a rapid liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of several LysoSLs in plasma. METHODS: We analyzed the following compounds: hexosylsphingosine (HexSph), globotriaosylsphingosine (LysoGb3), lysosphingomyelin (LysoSM) and lysosphingomyelin-509 (LysoSM-509). The sample preparation requires only 100 µL of plasma and consists of an extraction with a mixture of MeOH/acetone/H2O (45:45:10, v/v). RESULTS: The method validation showed high sensitivity, an excellent accuracy and precision. Reference ranges were determined in healthy adult and pediatric population. The results demonstrate that the LC-MS/MS method can quantify different LysoSLs and can be used to identify patients with Fabry (LysoGb3), Gaucher and Krabbe (HexSph) diseases, prosaposine deficiency (LysoGb3 and HexSph), and Niemann-Pick disease types A/B and C (LysoSM and LysoSM-509). CONCLUSIONS: This LC-MS/MS method allows a rapid and simultaneous quantification of LysoSLs and is useful as a biochemical diagnostic tool for sphingolipidoses.
[Mh] Termos MeSH primário: Biomarcadores/sangue
Cromatografia Líquida/métodos
Esfingolipidoses/diagnóstico
Esfingolipídeos/sangue
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Estudos de Casos e Controles
Criança
Pré-Escolar
Seres Humanos
Lactente
Recém-Nascido
Meia-Idade
Valores de Referência
Reprodutibilidade dos Testes
Esfingolipidoses/sangue
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Sphingolipids)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160818
[St] Status:MEDLINE


  5 / 346 MEDLINE  
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[PMID]:27717417
[Au] Autor:Kuchar L; Asfaw B; Rybová J; Ledvinová J
[Ad] Endereço:Charles University in Prague and General University Hospital, Prague, Czech Republic. Electronic address: ladislav.kuchar@lf1.cuni.cz.
[Ti] Título:Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.
[So] Source:Adv Clin Chem;77:177-219, 2016.
[Is] ISSN:0065-2423
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In recent years, mass spectrometry (MS) has become the dominant technology in lipidomic analysis. It is widely used in diagnosis and research of lipid metabolism disorders including those characterized by impairment of lysosomal functions and storage of nondegraded-degraded substrates. These rare diseases, which include sphingolipidoses, have severe and often fatal clinical consequences. Modern MS methods have contributed significantly to achieve a definitive diagnosis, which is essential in clinical practice to begin properly targeted patient care. Here we summarize MS and tandem MS methods used for qualitative and quantitative analysis of sphingolipids (SL) relative to the diagnostic process for sphingolipidoses and studies focusing on alterations in cell functions due to these disorders. This review covers the following topics: Tandem MS is sensitive and robust in determining the composition of sphingolipid classes in various biological materials. Its ability to establish SL metabolomic profiles using MS bench-top analyzers, significantly benefits the first stages of a diagnosis as well as metabolic studies of these disorders. It can thus contribute to a better understanding of the biological significance of SL.
[Mh] Termos MeSH primário: Esfingolipidoses/diagnóstico
Esfingolipídeos/análise
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Seres Humanos
Esfingolipídeos/química
Esfingolipídeos/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Sphingolipids)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170308
[Lr] Data última revisão:
170308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161009
[St] Status:MEDLINE


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[PMID]:27638615
[Au] Autor:Scesa G; Moyano AL; Bongarzone ER; Givogri MI
[Ad] Endereço:Department of Anatomy and Cell Biology, College of Medicine. University of Illinois at Chicago, Chicago, Illinois.
[Ti] Título:Port-to-port delivery: Mobilization of toxic sphingolipids via extracellular vesicles.
[So] Source:J Neurosci Res;94(11):1333-40, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The discovery that most cells produce extracellular vesicles (EVs) and release them in the extracellular milieu has spurred the idea that these membranous cargoes spread pathogenic mechanisms. In the brain, EVs may have multifold and important physiological functions, from deregulating synaptic activity to promoting demyelination to changes in microglial activity. The finding that small EVs (exosomes) contain α-synuclein and ß-amyloid, among other pathogenic proteins, is an example of this notion, underscoring their potential role in the brains of patients with Parkinson's and Alzheimer's diseases. Given that they are membranous vesicles, we speculate that EVs also have an intrinsic capacity to incorporate sphingolipids. In conditions under which these lipids are elevated to toxic levels, such as in Krabbe's disease and metachromatic leukodystrophy, EVs may contribute to spread disease from sick to healthy cells. In this essay, we discuss a working hypothesis that brain cells in sphingolipidoses clear some of the accumulated lipid material to attempt restoring cell homeostasis via EV secretion. We hypothesize that secreted sphingolipid-loaded EVs shuttle pathogenic lipids to cells that are not intrinsically affected, contributing to establishing non-cell-autonomous defects. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Transporte Biológico/fisiologia
Encéfalo/citologia
Comunicação Celular/fisiologia
Vesículas Extracelulares/metabolismo
Esfingolipídeos/metabolismo
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Modelos Biológicos
Esfingolipidoses/patologia
Esfingolipídeos/toxicidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sphingolipids)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23798


  7 / 346 MEDLINE  
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[PMID]:27638590
[Au] Autor:Sural-Fehr T; Bongarzone ER
[Ad] Endereço:Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois. tubasural@gmail.com.
[Ti] Título:How membrane dysfunction influences neuronal survival pathways in sphingolipid storage disorders.
[So] Source:J Neurosci Res;94(11):1042-8, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses are a class of inherited diseases that result from the toxic accumulation of undigested sphingolipids in lysosomes and other cellular membranes. Sphingolipids are particularly enriched in cells of the nervous system, and their excessive accumulation during disease has a significant impact on the nervous system. Neuronal dysfunction followed by neurological compromise is a common feature in many of these diseases; however, the underlying mechanisms that cause vulnerability of neurons are not fully understood. The plasma membrane plays a critical role in regulating cellular survival pathways, and its dysfunction has been implicated in neuronal failure in various adult-onset neuropathies. In the context of sphingolipidoses, we hypothesize that gradual accumulation of undigested lipids in plasma membranes causes local disruptions in lipid raft domains, leading to deregulation of multiple signaling pathways important for neuronal survival and function. We propose that defects in downstream signaling as a result of membrane dysfunction are common mechanisms underlying neuronal vulnerability in sphingolipid storage disorders with neurological compromise. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Membrana Celular/metabolismo
Sistema Nervoso/patologia
Neurônios/patologia
Esfingolipidoses/patologia
Esfingolipídeos/metabolismo
[Mh] Termos MeSH secundário: Animais
Membrana Celular/patologia
Seres Humanos
Esfingolipídeos/toxicidade
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Sphingolipids)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23763


  8 / 346 MEDLINE  
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[PMID]:27638588
[Au] Autor:Cantuti-Castelvetri L; Bongarzone ER
[Ad] Endereço:Max Planck Institute of Experimental Medicine, Department of Cellular and Molecular Neurobiology, Göttingen, Germany.
[Ti] Título:Synaptic failure: The achilles tendon of sphingolipidoses.
[So] Source:J Neurosci Res;94(11):1031-6, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The presence of life-threatening neurological symptoms in more than two-thirds of lysosomal storage diseases (LSDs) underscores how vulnerable the nervous system is to lysosomal failure. Neurological dysfunction in LSDs has historically been attributed to the disruption of neuronal and glial homeostasis resulting from the progressive jamming of the endosomal/lysosomal pathway. In neurons, a dysfunctional endosomal-lysosomal system can elicit dire consequences. Given that neurons are largely postmitotic after birth, one can clearly understand that the inability of these cells to proliferate obliterates any possibility of diluting stored lysosomal material by means of cellular division. At its most advanced stage, this situation constitutes a terminal factor in neuronal life, resulting in cell death. However, synaptic deficits in the absence of classical neuronal cell death appear to be common features during the early stages in many LSDs, particularly sphingolipidoses. In essence, failure of synapses to convey their messages, even without major structural damage to the neuronal bodies, is a form of physiological death. This concept of dying-back neuropathology is highly relevant not only for understanding the dynamics of the neurological decline in these diseases, but, more importantly; it might also constitute an important target for molecular therapies to protect perhaps the "Achilles" point in the entire physiological architecture of the brain, thus avoiding an irreversible journey to neuronal demise. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Sistema Nervoso/patologia
Neurônios/patologia
Esfingolipidoses/patologia
Sinapses/fisiologia
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Modelos Neurológicos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23753


  9 / 346 MEDLINE  
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[PMID]:27638586
[Au] Autor:D'Auria L; Bongarzone ER
[Ad] Endereço:Department of Anatomy and Cell Biology, University of Illinois, Chicago, Illinois. dauria@uic.edu.
[Ti] Título:Fluid levity of the cell: Role of membrane lipid architecture in genetic sphingolipidoses.
[So] Source:J Neurosci Res;94(11):1019-24, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses arise from inherited loss of function of key enzymes regulating the sphingolipid (SL) metabolism and the accumulation of large quantities of these lipids in affected cells. Most frequently, toxicity is manifested in the nervous system, where survival and function of neurons and glial cells are most affected. Although detailed information is available on neuroglial alterations during terminal stages of the disease, the initial pathogenic mechanisms triggering neuropathology are largely unclear. Because they are key components of biological membranes, changes in the local concentration of SLs are likely to impact the organization of membrane domains and functions. This Commentary proposes that SL toxicity involves initial defects in the integrity of lipid domains, membrane fluidity, and membrane bending, leading to membrane deformation and deregulation of cell signaling and function. Understanding how SLs alter membrane architecture may provide breakthroughs for more efficient treatment of sphingolipidoses. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Fluidez de Membrana/fisiologia
Lipídeos de Membrana/genética
Esfingolipidoses/genética
Esfingolipidoses/patologia
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Lipídeos de Membrana/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Lipids)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23750


  10 / 346 MEDLINE  
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[PMID]:27629047
[Au] Autor:Alfadhel M; Benmeakel M; Hossain MA; Al Mutairi F; Al Othaim A; Alfares AA; Al Balwi M; Alzaben A; Eyaid W
[Ad] Endereço:Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.
[Ti] Título:Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
[So] Source:Orphanet J Rare Dis;11(1):126, 2016 09 15.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period. RESULTS: Over the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD. CONCLUSION: Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo/epidemiologia
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Incidência
Doenças por Armazenamento dos Lisossomos/epidemiologia
Doenças por Armazenamento dos Lisossomos/genética
Masculino
Erros Inatos do Metabolismo/genética
Mutação/genética
Estudos Retrospectivos
Arábia Saudita/epidemiologia
Esfingolipidoses/epidemiologia
Esfingolipidoses/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160916
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-016-0510-3



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