{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T17:34:09Z","timestamp":1780680849082,"version":"3.54.1"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0011_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hypoparathyroidism (HypoPT) is a rare disorder and non-surgical cases require careful evaluation, since may be due to genetic, autoimmune, or metabolic factors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0011_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and inappropriately normal level of intact parathyroid hormone. Main etiologies of primary HypoPT were excluded, so it was suspected to be related to MCAD deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0011_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. We present the second case describing the coexistence of both rare diseases. Since HypoPT can be a life-threatening condition, we suggest calcium levels be assessed in these patients on a regular basis. Further research is needed to better understand this complex association.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0011","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T17:20:25Z","timestamp":1679937625000},"page":"505-507","source":"Crossref","is-referenced-by-count":1,"title":["Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8294-4715","authenticated-orcid":false,"given":"Isabel","family":"Huguet","sequence":"first","affiliation":[{"name":"Hospital Infanta Leonor , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo Mart\u00ednez","family":"D\u00edaz-Guerra","sequence":"additional","affiliation":[{"name":"Endocrinology , Hospital Universitario 12 de Octubre , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,3,28]]},"reference":[{"key":"2023050204214813141_j_jpem-2023-0011_ref_001","doi-asserted-by":"crossref","unstructured":"Clarke, BL, Brown, EM, Collins, MT, J\u00fcppner, H, Lakatos, P, Levine, MA, et al.. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab 2016;101:2284\u201399. https:\/\/doi.org\/10.1210\/jc.2015-3908.","DOI":"10.1210\/jc.2015-3908"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_002","doi-asserted-by":"crossref","unstructured":"Mason, E, Hindmarch, CCT, Dunham-Snary, KJ. Medium-chain Acyl-COA dehydrogenase deficiency: pathogenesis, diagnosis, and treatment. Endocrinol Diabetes Metab 2022:e385. https:\/\/doi.org\/10.1002\/edm2.385 [Epub ahead of print].","DOI":"10.1002\/edm2.385"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_003","doi-asserted-by":"crossref","unstructured":"Baruteau, J, Levade, T, Redonnet-Vernhet, I, Mesli, S, Bloom, MC, Brou\u00e9, P. Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD). J Pediatr Endocrinol Metab 2009;22:1175\u20137. https:\/\/doi.org\/10.1515\/jpem.2009.22.12.1175.","DOI":"10.1515\/JPEM.2009.22.12.1175"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_004","doi-asserted-by":"crossref","unstructured":"Merritt, JL 2nd, Norris, M, Kanungo, S. Fatty acid oxidation disorders. Ann Transl Med 2018;6:473. https:\/\/doi.org\/10.21037\/atm.2018.10.57.","DOI":"10.21037\/atm.2018.10.57"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_005","doi-asserted-by":"crossref","unstructured":"Martinez, G, Garcia-Lozano, JR, Ribes, A, Maldonado, MD, Baldellou, A, de Pablo, R, et al.. High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. Pediatr Res 1998;44:83\u20134. https:\/\/doi.org\/10.1203\/00006450-199807000-00013.","DOI":"10.1203\/00006450-199807000-00013"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_006","doi-asserted-by":"crossref","unstructured":"Tyni, T, Rapola, J, Palotie, A, Pihko, H. Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr 1997;131:766\u20138. https:\/\/doi.org\/10.1016\/s0022-3476(97)70111-2.","DOI":"10.1016\/S0022-3476(97)70111-2"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_007","doi-asserted-by":"crossref","unstructured":"Dionisi-Vici, C, Garavaglia, B, Burlina, AB, Bertini, E, Saponara, I, Sabetta, G, et al.. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 1996;129:159\u201362. https:\/\/doi.org\/10.1016\/s0022-3476(96)70206-8.","DOI":"10.1016\/S0022-3476(96)70206-8"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_008","doi-asserted-by":"crossref","unstructured":"Labarthe, F, Benoist, JF, Brivet, M, Vianey-Saban, C, Despert, F, de Baulny, HO. Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. Eur J Pediatr 2006;165:389\u201391. https:\/\/doi.org\/10.1007\/s00431-005-0052-5.","DOI":"10.1007\/s00431-005-0052-5"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_009","doi-asserted-by":"crossref","unstructured":"Naiki, M, Ochi, N, Kato, YS, Purevsuren, J, Yamada, K, Kimura, R, et al.. Mutations in HADHB, which encodes the b-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. Am J Med Genet 2014;164A:1180\u20137. https:\/\/doi.org\/10.1002\/ajmg.a.36434.","DOI":"10.1002\/ajmg.a.36434"},{"key":"2023050204214813141_j_jpem-2023-0011_ref_010","doi-asserted-by":"crossref","unstructured":"Bo, R, Yamada, K, Kobayashi, H, Jamiyan, P, Hasegawa, Y, Taketani, T, et al.. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. J Hum Genet 2017;62:809\u201314. https:\/\/doi.org\/10.1038\/jhg.2017.52.","DOI":"10.1038\/jhg.2017.52"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0011\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0011\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T04:23:35Z","timestamp":1683001415000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2023-0011\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,28]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3,15]]},"published-print":{"date-parts":[[2023,5,25]]}},"alternative-id":["10.1515\/jpem-2023-0011"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2023-0011","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,28]]}}}