Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Aim Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patie...
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| Veröffentlicht in: | Acta Paediatrica 2016-05, Vol.105 (5), p.549-554 |
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| container_title | Acta Paediatrica |
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| creator | Immonen, Tuuli Turanlahti, Maila Paganus, Aila Keskinen, Päivi Tyni, Tiina Lapatto, Risto |
| description | Aim
Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.
Methods
From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.
Results
The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0–30 days and the survival rate at the end of the study was 62.5% compared with 10‐year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.
Conclusion
Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long‐term complications, such as retinopathy and neuropathy. |
| doi_str_mv | 10.1111/apa.13313 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1811898731</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1811898731</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4243-a2b3a08b5501860978c2bd94babbf99e421b4ab3dd4dca2a20a727e0ef8be3573</originalsourceid><addsrcrecordid>eNqF0c1u1DAQB3ALgei2cOAFkCUucEjrr8TJcbWUFlQ-DqAiLtbEnuy6ZJOtnWybR-CtMbttD0gIXyyNfjPSzJ-QF5wd8_ROYAPHXEouH5EZL3KeCSH0YzJjJZNZLnJ5QA5jvGJMyEoVT8mBKApdJD8jv04htB4DdR6WXR99pNA5Gofg7ZCKOETq15vQb5EOK6RxDFu_hZYGGHBHbes7b1PF9mOISPuGtn23zOwKfEdltppc6G8nsFObLfo5dbirLLGDpB023nrs7PSMPGmgjfj87j8i396dfl2cZxefz94v5heZVULJDEQtgZV1njNeFqzSpRW1q1QNdd1UFSrBawW1dE45CwIEAy00MmzKGmWu5RF5vZ-blroeMQ5m7aPFtoUO-zEaXnJeVqVO5_kv1SXLWVnpKtFXf9GrdI4uLZKUrgqtcqmSerNXNvQxBmzMJvg1hMlwZv5EaVKUZhdlsi_vJo71Gt2DvM8ugZM9uPEtTv-eZOZf5vcjs32HjwPePnRA-GkKLXVuLj-dGf7h-8fLt-fK_JC_AQskuGU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1779674534</pqid></control><display><type>article</type><title>Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><source>Alma/SFX Local Collection</source><creator>Immonen, Tuuli ; Turanlahti, Maila ; Paganus, Aila ; Keskinen, Päivi ; Tyni, Tiina ; Lapatto, Risto</creator><creatorcontrib>Immonen, Tuuli ; Turanlahti, Maila ; Paganus, Aila ; Keskinen, Päivi ; Tyni, Tiina ; Lapatto, Risto</creatorcontrib><description>Aim
Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.
Methods
From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.
Results
The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0–30 days and the survival rate at the end of the study was 62.5% compared with 10‐year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.
Conclusion
Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long‐term complications, such as retinopathy and neuropathy.</description><identifier>ISSN: 0803-5253</identifier><identifier>EISSN: 1651-2227</identifier><identifier>DOI: 10.1111/apa.13313</identifier><identifier>PMID: 26676313</identifier><language>eng</language><publisher>Norway: Blackwell Publishing Ltd</publisher><subject>Cardiomyopathies - diagnosis ; Cardiomyopathies - diet therapy ; Cardiomyopathies - mortality ; Cardiomyopathy ; Child ; Child, Preschool ; Dehydrogenases ; Early Diagnosis ; Female ; Finland ; Follow-Up Studies ; Humans ; Infant ; Lipid Metabolism, Inborn Errors - diagnosis ; Lipid Metabolism, Inborn Errors - diet therapy ; Lipid Metabolism, Inborn Errors - mortality ; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ; Male ; Metabolic disorders ; Mitochondrial Myopathies - diagnosis ; Mitochondrial Myopathies - diet therapy ; Mitochondrial Myopathies - mortality ; Mitochondrial Trifunctional Protein - deficiency ; Nervous System Diseases - diagnosis ; Nervous System Diseases - diet therapy ; Nervous System Diseases - mortality ; Neuropathy ; Newborn screening ; Prospective Studies ; Retinopathy ; Retrospective Studies ; Rhabdomyolysis - diagnosis ; Rhabdomyolysis - diet therapy ; Rhabdomyolysis - mortality ; Survival Rate ; Treatment Outcome</subject><ispartof>Acta Paediatrica, 2016-05, Vol.105 (5), p.549-554</ispartof><rights>2015 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd</rights><rights>2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.</rights><rights>Copyright © 2016 Foundation Acta Pædiatrica</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4243-a2b3a08b5501860978c2bd94babbf99e421b4ab3dd4dca2a20a727e0ef8be3573</citedby><cites>FETCH-LOGICAL-c4243-a2b3a08b5501860978c2bd94babbf99e421b4ab3dd4dca2a20a727e0ef8be3573</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fapa.13313$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fapa.13313$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26676313$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Immonen, Tuuli</creatorcontrib><creatorcontrib>Turanlahti, Maila</creatorcontrib><creatorcontrib>Paganus, Aila</creatorcontrib><creatorcontrib>Keskinen, Päivi</creatorcontrib><creatorcontrib>Tyni, Tiina</creatorcontrib><creatorcontrib>Lapatto, Risto</creatorcontrib><title>Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</title><title>Acta Paediatrica</title><addtitle>Acta Paediatr</addtitle><description>Aim
Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.
Methods
From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.
Results
The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0–30 days and the survival rate at the end of the study was 62.5% compared with 10‐year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.
Conclusion
Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long‐term complications, such as retinopathy and neuropathy.</description><subject>Cardiomyopathies - diagnosis</subject><subject>Cardiomyopathies - diet therapy</subject><subject>Cardiomyopathies - mortality</subject><subject>Cardiomyopathy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Dehydrogenases</subject><subject>Early Diagnosis</subject><subject>Female</subject><subject>Finland</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Infant</subject><subject>Lipid Metabolism, Inborn Errors - diagnosis</subject><subject>Lipid Metabolism, Inborn Errors - diet therapy</subject><subject>Lipid Metabolism, Inborn Errors - mortality</subject><subject>Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</subject><subject>Male</subject><subject>Metabolic disorders</subject><subject>Mitochondrial Myopathies - diagnosis</subject><subject>Mitochondrial Myopathies - diet therapy</subject><subject>Mitochondrial Myopathies - mortality</subject><subject>Mitochondrial Trifunctional Protein - deficiency</subject><subject>Nervous System Diseases - diagnosis</subject><subject>Nervous System Diseases - diet therapy</subject><subject>Nervous System Diseases - mortality</subject><subject>Neuropathy</subject><subject>Newborn screening</subject><subject>Prospective Studies</subject><subject>Retinopathy</subject><subject>Retrospective Studies</subject><subject>Rhabdomyolysis - diagnosis</subject><subject>Rhabdomyolysis - diet therapy</subject><subject>Rhabdomyolysis - mortality</subject><subject>Survival Rate</subject><subject>Treatment Outcome</subject><issn>0803-5253</issn><issn>1651-2227</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0c1u1DAQB3ALgei2cOAFkCUucEjrr8TJcbWUFlQ-DqAiLtbEnuy6ZJOtnWybR-CtMbttD0gIXyyNfjPSzJ-QF5wd8_ROYAPHXEouH5EZL3KeCSH0YzJjJZNZLnJ5QA5jvGJMyEoVT8mBKApdJD8jv04htB4DdR6WXR99pNA5Gofg7ZCKOETq15vQb5EOK6RxDFu_hZYGGHBHbes7b1PF9mOISPuGtn23zOwKfEdltppc6G8nsFObLfo5dbirLLGDpB023nrs7PSMPGmgjfj87j8i396dfl2cZxefz94v5heZVULJDEQtgZV1njNeFqzSpRW1q1QNdd1UFSrBawW1dE45CwIEAy00MmzKGmWu5RF5vZ-blroeMQ5m7aPFtoUO-zEaXnJeVqVO5_kv1SXLWVnpKtFXf9GrdI4uLZKUrgqtcqmSerNXNvQxBmzMJvg1hMlwZv5EaVKUZhdlsi_vJo71Gt2DvM8ugZM9uPEtTv-eZOZf5vcjs32HjwPePnRA-GkKLXVuLj-dGf7h-8fLt-fK_JC_AQskuGU</recordid><startdate>201605</startdate><enddate>201605</enddate><creator>Immonen, Tuuli</creator><creator>Turanlahti, Maila</creator><creator>Paganus, Aila</creator><creator>Keskinen, Päivi</creator><creator>Tyni, Tiina</creator><creator>Lapatto, Risto</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>7X8</scope></search><sort><creationdate>201605</creationdate><title>Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</title><author>Immonen, Tuuli ; Turanlahti, Maila ; Paganus, Aila ; Keskinen, Päivi ; Tyni, Tiina ; Lapatto, Risto</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4243-a2b3a08b5501860978c2bd94babbf99e421b4ab3dd4dca2a20a727e0ef8be3573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Cardiomyopathies - diagnosis</topic><topic>Cardiomyopathies - diet therapy</topic><topic>Cardiomyopathies - mortality</topic><topic>Cardiomyopathy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Dehydrogenases</topic><topic>Early Diagnosis</topic><topic>Female</topic><topic>Finland</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Lipid Metabolism, Inborn Errors - diagnosis</topic><topic>Lipid Metabolism, Inborn Errors - diet therapy</topic><topic>Lipid Metabolism, Inborn Errors - mortality</topic><topic>Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</topic><topic>Male</topic><topic>Metabolic disorders</topic><topic>Mitochondrial Myopathies - diagnosis</topic><topic>Mitochondrial Myopathies - diet therapy</topic><topic>Mitochondrial Myopathies - mortality</topic><topic>Mitochondrial Trifunctional Protein - deficiency</topic><topic>Nervous System Diseases - diagnosis</topic><topic>Nervous System Diseases - diet therapy</topic><topic>Nervous System Diseases - mortality</topic><topic>Neuropathy</topic><topic>Newborn screening</topic><topic>Prospective Studies</topic><topic>Retinopathy</topic><topic>Retrospective Studies</topic><topic>Rhabdomyolysis - diagnosis</topic><topic>Rhabdomyolysis - diet therapy</topic><topic>Rhabdomyolysis - mortality</topic><topic>Survival Rate</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Immonen, Tuuli</creatorcontrib><creatorcontrib>Turanlahti, Maila</creatorcontrib><creatorcontrib>Paganus, Aila</creatorcontrib><creatorcontrib>Keskinen, Päivi</creatorcontrib><creatorcontrib>Tyni, Tiina</creatorcontrib><creatorcontrib>Lapatto, Risto</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>MEDLINE - Academic</collection><jtitle>Acta Paediatrica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Immonen, Tuuli</au><au>Turanlahti, Maila</au><au>Paganus, Aila</au><au>Keskinen, Päivi</au><au>Tyni, Tiina</au><au>Lapatto, Risto</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency</atitle><jtitle>Acta Paediatrica</jtitle><addtitle>Acta Paediatr</addtitle><date>2016-05</date><risdate>2016</risdate><volume>105</volume><issue>5</issue><spage>549</spage><epage>554</epage><pages>549-554</pages><issn>0803-5253</issn><eissn>1651-2227</eissn><abstract>Aim
Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.
Methods
From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.
Results
The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0–30 days and the survival rate at the end of the study was 62.5% compared with 10‐year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.
Conclusion
Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long‐term complications, such as retinopathy and neuropathy.</abstract><cop>Norway</cop><pub>Blackwell Publishing Ltd</pub><pmid>26676313</pmid><doi>10.1111/apa.13313</doi><tpages>6</tpages></addata></record> |
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| subjects | Cardiomyopathies - diagnosis Cardiomyopathies - diet therapy Cardiomyopathies - mortality Cardiomyopathy Child Child, Preschool Dehydrogenases Early Diagnosis Female Finland Follow-Up Studies Humans Infant Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - diet therapy Lipid Metabolism, Inborn Errors - mortality Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Male Metabolic disorders Mitochondrial Myopathies - diagnosis Mitochondrial Myopathies - diet therapy Mitochondrial Myopathies - mortality Mitochondrial Trifunctional Protein - deficiency Nervous System Diseases - diagnosis Nervous System Diseases - diet therapy Nervous System Diseases - mortality Neuropathy Newborn screening Prospective Studies Retinopathy Retrospective Studies Rhabdomyolysis - diagnosis Rhabdomyolysis - diet therapy Rhabdomyolysis - mortality Survival Rate Treatment Outcome |
| title | Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
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