A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias
Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with increased leucine. We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in...
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| Veröffentlicht in: | Genetics in medicine 2016-04, Vol.18 (4), p.386-395 |
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| creator | Manoli, Irini Myles, Jennifer G. Sloan, Jennifer L. Shchelochkov, Oleg A. Venditti, Charles P. |
| description | Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with increased leucine. We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in a cohort of patients with MMA ascertained via a natural history study.
Cross-sectional anthropometric and body-composition measurements were correlated with diet content and disease-related biomarkers in 61 patients with isolated MMA (46 mut, 9 cblA, and 6 cblB).
Patients with MMA tolerated close to the recommended daily allowance (RDA) of complete protein (mut0: 99.45 ± 32.05% RDA). However, 85% received medical foods, in which the protein equivalent often exceeded complete protein intake (35%). Medical food consumption resulted in low plasma valine and isoleucine concentrations, prompting paradoxical supplementation with these propiogenic amino acids. Weight- and height-for-age z-scores correlated negatively with the leucine-to-valine intake ratio (r = −0.453; P = 0.014; R2 = 0.209 and r = −0.341; P = 0.05; R2 = 0.123, respectively).
Increased leucine intake in patients with MMA resulted in iatrogenic amino acid deficiencies and was associated with adverse growth outcomes. Medical foods for propionate oxidation disorders need to be redesigned and studied prospectively to ensure efficacy and safety. |
| doi_str_mv | 10.1038/gim.2015.102 |
| format | Article |
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Cross-sectional anthropometric and body-composition measurements were correlated with diet content and disease-related biomarkers in 61 patients with isolated MMA (46 mut, 9 cblA, and 6 cblB).
Patients with MMA tolerated close to the recommended daily allowance (RDA) of complete protein (mut0: 99.45 ± 32.05% RDA). However, 85% received medical foods, in which the protein equivalent often exceeded complete protein intake (35%). Medical food consumption resulted in low plasma valine and isoleucine concentrations, prompting paradoxical supplementation with these propiogenic amino acids. Weight- and height-for-age z-scores correlated negatively with the leucine-to-valine intake ratio (r = −0.453; P = 0.014; R2 = 0.209 and r = −0.341; P = 0.05; R2 = 0.123, respectively).
Increased leucine intake in patients with MMA resulted in iatrogenic amino acid deficiencies and was associated with adverse growth outcomes. Medical foods for propionate oxidation disorders need to be redesigned and studied prospectively to ensure efficacy and safety.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2015.102</identifier><identifier>PMID: 26270765</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>631/208/1516 ; 692/308 ; 692/699/317 ; 692/700/2814 ; Adolescent ; Adult ; Amino Acid Metabolism, Inborn Errors - diagnosis ; Amino Acid Metabolism, Inborn Errors - diet therapy ; Amino Acids, Branched-Chain ; Biomedicine ; Body Composition ; Body Weights and Measures ; branched-chain amino acids ; Child ; Child, Preschool ; Cross-Sectional Studies ; Diet - adverse effects ; dietary guidelines ; Dietary Proteins ; Dietary Supplements ; Disease Management ; Female ; Human Genetics ; Humans ; Laboratory Medicine ; leucine ; Male ; medical foods ; methylmalonic acidemia ; original-research-article ; Treatment Outcome ; Young Adult</subject><ispartof>Genetics in medicine, 2016-04, Vol.18 (4), p.386-395</ispartof><rights>2016 The Author(s)</rights><rights>American College of Medical Genetics and Genomics 2016</rights><rights>Copyright Nature Publishing Group Apr 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c497t-1d48b1e2f84713f5669adab59ac42008cf0431ab77d38fc939a4d989c1135fff3</citedby><orcidid>0000-0003-4520-0949 ; 0000-0001-7683-2557 ; 0000-0003-1543-2941</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1844727726?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,315,781,785,886,27929,27930,64390,64392,64394,72474</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26270765$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Manoli, Irini</creatorcontrib><creatorcontrib>Myles, Jennifer G.</creatorcontrib><creatorcontrib>Sloan, Jennifer L.</creatorcontrib><creatorcontrib>Shchelochkov, Oleg A.</creatorcontrib><creatorcontrib>Venditti, Charles P.</creatorcontrib><title>A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with increased leucine. We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in a cohort of patients with MMA ascertained via a natural history study.
Cross-sectional anthropometric and body-composition measurements were correlated with diet content and disease-related biomarkers in 61 patients with isolated MMA (46 mut, 9 cblA, and 6 cblB).
Patients with MMA tolerated close to the recommended daily allowance (RDA) of complete protein (mut0: 99.45 ± 32.05% RDA). However, 85% received medical foods, in which the protein equivalent often exceeded complete protein intake (35%). Medical food consumption resulted in low plasma valine and isoleucine concentrations, prompting paradoxical supplementation with these propiogenic amino acids. Weight- and height-for-age z-scores correlated negatively with the leucine-to-valine intake ratio (r = −0.453; P = 0.014; R2 = 0.209 and r = −0.341; P = 0.05; R2 = 0.123, respectively).
Increased leucine intake in patients with MMA resulted in iatrogenic amino acid deficiencies and was associated with adverse growth outcomes. Medical foods for propionate oxidation disorders need to be redesigned and studied prospectively to ensure efficacy and safety.</description><subject>631/208/1516</subject><subject>692/308</subject><subject>692/699/317</subject><subject>692/700/2814</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Amino Acid Metabolism, Inborn Errors - diet therapy</subject><subject>Amino Acids, Branched-Chain</subject><subject>Biomedicine</subject><subject>Body Composition</subject><subject>Body Weights and Measures</subject><subject>branched-chain amino acids</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cross-Sectional Studies</subject><subject>Diet - adverse effects</subject><subject>dietary guidelines</subject><subject>Dietary Proteins</subject><subject>Dietary Supplements</subject><subject>Disease Management</subject><subject>Female</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>leucine</subject><subject>Male</subject><subject>medical foods</subject><subject>methylmalonic acidemia</subject><subject>original-research-article</subject><subject>Treatment Outcome</subject><subject>Young Adult</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kU1v1DAQhiMEoqVw44wsceFAFn8kccwBqar4kirBAc7WxB7vukrixXYq7c_hn-KwpSqonOzxPPN6Zt6qes7ohlHRv9n6acMpa0vEH1SnrBW0pqLrHpY7VX0tOkpPqicpXVHKpOD0cXXCOy6p7NrT6uc5MdFnb2AkEWG_j-BTuQdHrMcM8UDKkykAJuJnMmHeHcYJxjB7Q8B4i5MHslYVwITZYJwTgSEsmeQdkgQO82HVm9D-_saFYNOGfIWYCXtLfAojZLT_kU5Pq0cOxoTPbs6z6vuH998uPtWXXz5-vji_rE2jZK6ZbfqBIXd9I5lwbdcpsDC0CkzDKe2No41gMEhpRe-MEgoaq3plGBOtc06cVe-OuvtlKK0anHOEUe-jn8oWdACv_87Mfqe34Vo3suWKt0Xg1Y1ADD8WTFlPPhkcR5gxLEkzKaXqWdut6Mt_0KuwxLmMp1nfNJJLybtCvT5SJoaUIrrbZhjVq_e6eK9X70vEC_7i7gC38B-zC1AfgVRS8xbjnV_vF-yOPJa1X_vCJ-OxOGx9RJO1Df7-wl-57M9A</recordid><startdate>20160401</startdate><enddate>20160401</enddate><creator>Manoli, Irini</creator><creator>Myles, Jennifer G.</creator><creator>Sloan, Jennifer L.</creator><creator>Shchelochkov, Oleg A.</creator><creator>Venditti, Charles P.</creator><general>Elsevier Inc</general><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-4520-0949</orcidid><orcidid>https://orcid.org/0000-0001-7683-2557</orcidid><orcidid>https://orcid.org/0000-0003-1543-2941</orcidid></search><sort><creationdate>20160401</creationdate><title>A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. 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Part 1: isolated methylmalonic acidemias</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2016-04-01</date><risdate>2016</risdate><volume>18</volume><issue>4</issue><spage>386</spage><epage>395</epage><pages>386-395</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with increased leucine. We aimed to assess the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in a cohort of patients with MMA ascertained via a natural history study.
Cross-sectional anthropometric and body-composition measurements were correlated with diet content and disease-related biomarkers in 61 patients with isolated MMA (46 mut, 9 cblA, and 6 cblB).
Patients with MMA tolerated close to the recommended daily allowance (RDA) of complete protein (mut0: 99.45 ± 32.05% RDA). However, 85% received medical foods, in which the protein equivalent often exceeded complete protein intake (35%). Medical food consumption resulted in low plasma valine and isoleucine concentrations, prompting paradoxical supplementation with these propiogenic amino acids. Weight- and height-for-age z-scores correlated negatively with the leucine-to-valine intake ratio (r = −0.453; P = 0.014; R2 = 0.209 and r = −0.341; P = 0.05; R2 = 0.123, respectively).
Increased leucine intake in patients with MMA resulted in iatrogenic amino acid deficiencies and was associated with adverse growth outcomes. Medical foods for propionate oxidation disorders need to be redesigned and studied prospectively to ensure efficacy and safety.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>26270765</pmid><doi>10.1038/gim.2015.102</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0003-4520-0949</orcidid><orcidid>https://orcid.org/0000-0001-7683-2557</orcidid><orcidid>https://orcid.org/0000-0003-1543-2941</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Genetics in medicine, 2016-04, Vol.18 (4), p.386-395 |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | 631/208/1516 692/308 692/699/317 692/700/2814 Adolescent Adult Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - diet therapy Amino Acids, Branched-Chain Biomedicine Body Composition Body Weights and Measures branched-chain amino acids Child Child, Preschool Cross-Sectional Studies Diet - adverse effects dietary guidelines Dietary Proteins Dietary Supplements Disease Management Female Human Genetics Humans Laboratory Medicine leucine Male medical foods methylmalonic acidemia original-research-article Treatment Outcome Young Adult |
| title | A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias |
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