Abstract
The mitochondrial trifunctional protein (MTP) catalyzes the last three steps in the 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 of the fatty acid β-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.
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Abbreviations
- MTP:
-
Mitochondrial trifunctional protein
- LCFA:
-
Long-chain fatty acid
- LCHAD:
-
Long-chain 3–hydroxyacyl–coenzyme A dehydrogenase
- RR:
-
Reference range
- iPTH:
-
Intact parathyroid hormone
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Labarthe, F., Benoist, J.F., Brivet, M. et al. Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. Eur J Pediatr 165, 389–391 (2006). https://doi.org/10.1007/s00431-005-0052-5
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DOI: https://doi.org/10.1007/s00431-005-0052-5