Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

摘要: The mitochondrial trifunctional protein (MTP) catalyzes the last three steps in long-chain fatty acid β-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 defect, persistent gland dysfunction was suggested by frequent mild episodes hypocalcaemia without increase plasma intact hormone (iPTH) levels during recurrent fasting-induced rhabdomyolysis our finding bilateral cataract 5 years An acute provocation test conducted stimulate iPTH release sodium bicarbonate infusion resulted subnormal rise release, which further supported partial hypoparathyroidism. This case is third associated hypoparathyroidism, thus raising possibility link between these two rare disorders.