{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T02:31:11Z","timestamp":1768617071744,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mitochondrial trifunctional protein (MTP) is a hetero\u2010octamer composed of four \u03b1\u2010 and four \u03b2\u2010subunits that catalyzes the final three steps of mitochondrial \u03b2\u2010oxidation of long chain fatty acids. <jats:italic>HADHA<\/jats:italic> and <jats:italic>HADHB<\/jats:italic> encode the \u03b1\u2010subunit and the \u03b2\u2010subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we report on two siblings with autosomal recessive infantile onset hypoparathyroidism, peripheral polyneuropathy, and rhabdomyolysis. Sequence analysis of <jats:italic>HADHA<\/jats:italic> and <jats:italic>HADHB<\/jats:italic> in both siblings shows that they were homozygous for a mutation in exon 14 of <jats:italic>HADHB<\/jats:italic> (c.1175C&gt;T, [p.A392V]) and the parents were heterozygous for the mutation. Biochemical analysis revealed that the patients had MTP deficiency. Structural analysis indicated that the A392V mutation identified in this study and the N389D mutation previously reported to be associated with hypoparathyroidism are both located near the active site of MTP and affect the conformation of the \u03b2\u2010subunit. Thus, the present patients are the second and third cases of MTP deficiency associated with missense <jats:italic>HADHB<\/jats:italic> mutation and infantile onset hypoparathyroidism. Since MTP deficiency is a treatable disease, MTP deficiency should be considered when patients have hypoparathyroidism as the initial presenting feature in infancy. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36434","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:53:05Z","timestamp":1395715985000},"page":"1180-1187","source":"Crossref","is-referenced-by-count":36,"title":["Mutations in <i>HADHB<\/i>, which encodes the \u03b2\u2010subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy"],"prefix":"10.1002","volume":"164","author":[{"given":"Misako","family":"Naiki","sequence":"first","affiliation":[{"name":"Department of Genetics Institute for Developmental Research Aichi Human Service Center Kasugai Aichi Japan"},{"name":"Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Ochi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Daini\u2010Aoitori Gakuen Aichi Prefectural Hospital and Habilitation Center for Disabled Children Okazaki Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke S.","family":"Kato","sequence":"additional","affiliation":[{"name":"Institute for Health Science Tokushima Bunri University Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamiyan","family":"Purevsuren","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shimane University Faculty of Medicine Izumo Shimane Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Developmental Research Aichi Human Service Center Kasugai Aichi 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