Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
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.
Labarthe
François
F
Groupement de Médecine Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37 044 Tours, Cedex 1, France. labarthe@med.univ-tours.fr
Benoist
Jean François
JF
Brivet
Michèle
M
Vianey-Saban
Christine
C
Despert
François
F
de Baulny
Hélène Ogier
HO
D002118:Calcium / Q000097:blood; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000453:epidemiology*; D007223:Infant; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D010281:Parathyroid Hormone / Q000097:blood
D009097:Multienzyme Complexes; D010281:Parathyroid Hormone; D063991:Mitochondrial Trifunctional Protein; D003402:Creatine Kinase; D002118:Calcium