{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:10:03Z","timestamp":1756379403693,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,4,7]]},"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>Nutritional deficiency-associated morbidity is still widespread in India and occurs due to various factors like lifestyle, diet and social and cultural issues. Here, we report a teenager who presented with symptoms and signs of vitamin B<jats:sub>12<\/jats:sub> deficiency in association with a rare underlying metabolic disorder. A teenager in his early adolescence presented with acute febrile illness with clinical signs of hypopigmented hair, knuckle hyperpigmentation, dystonia and spasticity. Neuroimaging showed bilateral putamen signal changes and batwing sign features with a deranged metabolic profile (elevated serum homocysteine with low serum vitamin B<jats:sub>12<\/jats:sub>, free carnitine and acylcarnitine). Further, exome sequencing identified a novel, likely pathogenic frameshift deletion, c.1021delA, with the change of amino acid from threonine to leucine at position 341 with the introduction of stop codon after 16 amino acids with subsequent protein truncation, in the GCDH gene. Thus, we started the patient on parental cobalamin therapy with a glutaric aciduria type-1 specific diet. On follow-up, the child showed significant improvement, with a decrease in hyperpigmentation and dystonia.<\/jats:p>","DOI":"10.1136\/bcr-2024-264495","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:15:25Z","timestamp":1745554525000},"page":"e264495","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Glutaric aciduria type-1 in a teenager with nutritional vitamin B<sub>12<\/sub> deficiency: coexistence of two treatable conditions"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"first","affiliation":[{"name":"Neurophysician, Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaresh","family":"Roy","sequence":"additional","affiliation":[{"name":"Neurophysician, Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viveka Santhosh Reddy","family":"Challa","sequence":"additional","affiliation":[{"name":"Neurophysician, Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Neurophysician, Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saini","family":"Jitender","sequence":"additional","affiliation":[{"name":"Neuroimaging and Interventional Radiology, NIMHANS, Bengaluru, KA, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,24]]},"reference":[{"key":"2025082803494922000_18.4.e264495.1","first-page":"237","article-title":"Vitamin B12 deficiency: case report and review of literature","volume":"38","author":"Hasbaoui","year":"2021","journal-title":"Pan Afr Med J"},{"key":"2025082803494922000_18.4.e264495.2","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/fmn112"},{"key":"2025082803494922000_18.4.e264495.3","first-page":"269","article-title":"Prevalence & etiology of nutritional anaemias in early childhood in an urban slum","volume":"107","author":"Gomber","year":"1998","journal-title":"Indian J Med Res"},{"key":"2025082803494922000_18.4.e264495.4","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.972468"},{"key":"2025082803494922000_18.4.e264495.5","doi-asserted-by":"crossref","first-page":"356","DOI":"10.4103\/JPN.JPN_35_17","article-title":"A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I","volume":"12","author":"Yoganathan","year":"2017","journal-title":"J Pediatr Neurosci"},{"key":"2025082803494922000_18.4.e264495.6","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1007\/s13312-023-2995-1","article-title":"Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome","volume":"60","author":"Gowda","year":"2023","journal-title":"Indian Pediatr"},{"key":"2025082803494922000_18.4.e264495.7","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1007\/s12098-019-03111-2","article-title":"Reversible Basal Ganglia Changes and Metabolic Crisis in Infantile Tremor Syndrome","volume":"87","author":"Kesavan","year":"2020","journal-title":"Indian J Pediatr"},{"key":"2025082803494922000_18.4.e264495.8","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000045771.66300.2a"},{"key":"2025082803494922000_18.4.e264495.9","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.1084"},{"key":"2025082803494922000_18.4.e264495.10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082803494922000_18.4.e264495.11","unstructured":"Vitamin b12. medschool.co. n.d. Available: https:\/\/medschool.co\/tests\/megaloblastic\/vitamin-b12"},{"key":"2025082803494922000_18.4.e264495.12","doi-asserted-by":"crossref","unstructured":"Bernstein LE . Nutrition management of glutaric acidemia type 1. In: Bernstein LE , Rohr F , Calcar S , eds. Nutrition management of inherited metabolic diseases. Cham: Springer, 2022. Available: https:\/\/doi.org\/10.1007\/978-3-030-94510-7_20","DOI":"10.1007\/978-3-030-94510-7"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-264495","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:49:58Z","timestamp":1756378198000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-264495"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4,24]]},"published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1136\/bcr-2024-264495"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-264495","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,4]]}}}