{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T13:30:37Z","timestamp":1781530237342,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T00:00:00Z","timestamp":1747008000000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from a deficiency of the enzyme methylmalonyl\u2010CoA mutase (MMUT), defects in the metabolism of its cofactor, adenosylcobalamin, or deficiency of the enzyme methylmalonyl\u2010CoA epimerase. With improved awareness, earlier diagnosis, and advances in care, women with MMA are increasingly reaching childbearing age, and successful pregnancies have been documented in patients with milder forms of the disease. This report details, for the first time, the management and outcomes of pregnancy in a woman with severe mut<jats:sup>0<\/jats:sup> deficiency and concomitant advanced chronic kidney disease (CKD) progressing to end\u2010stage renal disease (ESRD) requiring initiation of hemodialysis at 21\u2009weeks' gestation. At 20\u2009weeks, fetal ultrasound revealed fetal growth restriction (FGR), necessitating close monitoring and dietary adjustments to meet the patient's increased nutritional needs. Despite these challenges, she remained metabolically stable until delivery. At 35\u2009weeks, she delivered a 1.64\u2009kg male SGA newborn via cesarean section. The newborn presented with mild retrognathia, a soft palate cleft, mild hypospadias, mild ventriculomegaly, and hypoplasia of the corpus callosum and cerebellum without the need for immediate intervention. The mother experienced a mild metabolic decompensation on the fifth postpartum day, which was promptly managed by additional renal replacement therapy. At 3\u2009months postpartum, both mother and child were doing well, with no further metabolic complications observed. This case report demonstrates that pregnancy in patients with severe mut<jats:sup>0<\/jats:sup> deficiency is challenging and requires a close interdisciplinary management but can be carried out with a favorable outcome.<\/jats:p>","DOI":"10.1002\/jmd2.70009","type":"journal-article","created":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T06:44:03Z","timestamp":1747118643000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2393-3738","authenticated-orcid":false,"given":"M.","family":"Woidy","sequence":"first","affiliation":[{"name":"Department for Inborn Metabolic Diseases University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Tsiakas","sequence":"additional","affiliation":[{"name":"Department for Inborn Metabolic Diseases University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mahmud","sequence":"additional","affiliation":[{"name":"III.Department of Medicine University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"Hamburg Center for Kidney Health (HCKH), University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Eich","sequence":"additional","affiliation":[{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Loos","sequence":"additional","affiliation":[{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Lisfeld","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department for Inborn Metabolic Diseases University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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C.","family":"Muntau","sequence":"additional","affiliation":[{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gramer","sequence":"additional","affiliation":[{"name":"Department for Inborn Metabolic Diseases University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"},{"name":"University Children's Hospital, University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12370"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9802-8"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9389-2"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005597722237"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22633"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajogmf.2024.101399"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12978\u2010022\u201001496\u20106"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13154304"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajt.12282"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12617"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967\u2010024\u201005633\u20106"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T08:37:34Z","timestamp":1748421454000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/jmd2.70009"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70009","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"2024-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70009"}}