Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

European Journal of Pediatrics
François LabartheHélène Ogier de Baulny

Abstract

The mitochondrial trifunctional protein (MTP) catalyzes the last three steps in the long-chain fatty acid beta-oxidation pathway. We report herein a patient with an inherited MTP deficiency and hypoparathyroidism that were both revealed at 4 months of age. Although parathyroid function appeared to be normalized following nutritional management of the fatty acid beta-oxidation defect, persistent gland dysfunction was suggested by frequent mild episodes of hypocalcaemia without increase in plasma intact parathyroid hormone (iPTH) levels during recurrent fasting-induced episodes of rhabdomyolysis and by our finding of a bilateral cataract at 5 years of age. An acute provocation test conducted to stimulate iPTH release with sodium bicarbonate infusion resulted in a subnormal rise in iPTH release, which further supported a partial hypoparathyroidism. This case is the third report of inherited MTP deficiency associated with hypoparathyroidism, thus raising the possibility of a link between these two rare disorders.

References

Feb 1, 1976·American Journal of Diseases of Children·B A Kohn
Nov 16, 1992·Biochemical and Biophysical Research Communications·R J WandersJ M Saudubray
Jul 1, 1996·The Journal of Pediatrics·C Dionisi-ViciF Taroni
Aug 6, 1998·The Journal of Clinical Investigation·L IJlstR J Wanders
Jul 17, 1999·Journal of Inherited Metabolic Disease·J M SaudubrayM Brivet
Jul 20, 1963·Lancet·K H JONES, P FOURMAN
Nov 14, 2003·Endocrine Journal·Yasumasa IwasakiNobuo Nakashima

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Citations

Jan 6, 2010·Journal of Inherited Metabolic Disease·Bridget Wilcken
Jul 25, 2008·The New England Journal of Medicine·Dolores Shoback
Aug 4, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·John P BilezikianJames Sanders
Mar 26, 2010·Journal of Pediatric Endocrinology & Metabolism : JPEM·Julien BaruteauPierre Broué
Jun 22, 2018·Reviews in Endocrine & Metabolic Disorders·Suzan J G KnottnerusRiekelt H Houtkooper
Oct 19, 2019·World Journal of Clinical Cases·Li-Na DingWen-Bin Shang
Nov 18, 2017·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Theodossis S PapavramidisAntonios Michalopoulos
Jan 31, 2017·Rinshō shinkeigaku = Clinical neurology·Yuki YamamotoRyuji Kaji
Nov 25, 2020·Pediatric Clinics of North America·Alexander A BroomfieldStuart Wilkinson

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