{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T08:49:09Z","timestamp":1759826949281,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1RO1HD093570-01A1"],"award-info":[{"award-number":["1RO1HD093570-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,18]]},"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the <jats:italic>MMADHC<\/jats:italic> gene, known to cause homocystinuria, cblD type (MIM #277410). We describe significant clinical improvement with targeted therapy and emphasise the relevance of genomic testing in accurate management of inherited metabolic disorders.<\/jats:p>","DOI":"10.1136\/bcr-2020-239755","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T12:30:45Z","timestamp":1622723445000},"page":"e239755","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Report of rapid diagnosis and precise management of <i>MMADHC-<\/i>related intracellular cobalamin defect"],"prefix":"10.1136","volume":"14","author":[{"given":"Vivekananda","family":"Bhat","sequence":"first","affiliation":[{"name":"Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhanya Lakshmi","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,6,3]]},"reference":[{"key":"2025082723151079000_14.6.e239755.1","unstructured":"Sloan JL , Carrillo N , Adams D . Disorders of Intracellular Cobalamin Metabolism. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, 2008: 1993\u20132020. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1328\/"},{"key":"2025082723151079000_14.6.e239755.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa072200"},{"key":"2025082723151079000_14.6.e239755.3","first-page":"77","article-title":"Clinical, biochemical, and molecular presentation in a patient with the cblD-Homocystinuria inborn error of cobalamin metabolism","volume":"17","author":"Atkinson","year":"2014","journal-title":"JIMD Rep"},{"key":"2025082723151079000_14.6.e239755.4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr579"},{"key":"2025082723151079000_14.6.e239755.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.10.043"},{"key":"2025082723151079000_14.6.e239755.6","doi-asserted-by":"crossref","first-page":"2477","DOI":"10.4103\/0366-6999.243561","article-title":"A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family","volume":"131","author":"Wang","year":"2018","journal-title":"Chin Med J"},{"key":"2025082723151079000_14.6.e239755.7","doi-asserted-by":"crossref","first-page":"e54","DOI":"10.1097\/MPH.0000000000001120","article-title":"Neutropenia and increased mean corpuscular volume (MCV) with abnormal neurologic findings: a case of cobalamin D deficiency","volume":"41","author":"Soylu Ustkoyuncu","year":"2019","journal-title":"J Pediatr Hematol Oncol"},{"key":"2025082723151079000_14.6.e239755.8","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.nrl.2017.07.004","article-title":"Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: a report of 2 potentially treatable cases","volume":"34","author":"Cancho Garc\u00eda","year":"2019","journal-title":"Neurologia"},{"key":"2025082723151079000_14.6.e239755.9","first-page":"133","article-title":"Severe neonatal metabolic decompensation in methylmalonic acidemia caused by cblD defect","volume":"11","author":"Parini","year":"2013","journal-title":"JIMD Rep"},{"key":"2025082723151079000_14.6.e239755.10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M407733200"},{"key":"2025082723151079000_14.6.e239755.11","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-016-9991-4","article-title":"Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","volume":"40","author":"Huemer","year":"2017","journal-title":"J Inherit Metab Dis"},{"key":"2025082723151079000_14.6.e239755.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70496-2"},{"key":"2025082723151079000_14.6.e239755.13","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/gim.2015.45","article-title":"Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening","volume":"18","author":"Wong","year":"2016","journal-title":"Genet Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-239755","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:15:19Z","timestamp":1756361719000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-239755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,6,3]]},"published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1136\/bcr-2020-239755"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-239755","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,6]]}}}