Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

European Journal of Pediatrics

Volumn 165, Issue 6, 2006, Pages 389-391

  Labarthe, François ^a   Benoist, Jean François ^b   Brivet, Michèle ^c   Vianey Saban, Christine ^d   Despert, François ^a   Ogier De Baulny, Hélène ^b  

^a Centre de Pediatrie Clocheville   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c BICÊTRE HOSPITAL   (France)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

Hypocalcaemia; Long chain 3 hydroxyacyl coenzyme A dehydrogenase; Long chain fatty acid oxidation; Rhabdomyolysis; Sodium bicarbonate infusion test

Indexed keywords

BICARBONATE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; PARATHYROID HORMONE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CATALYSIS; CATARACT; DISEASE ASSOCIATION; FATTY ACID OXIDATION; FEMALE; HUMAN; HYPOCALCEMIA; HYPOTHYROIDISM; INFANT; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID HORMONE RELEASE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROVOCATION TEST; RHABDOMYOLYSIS;

CALCIUM; CREATINE KINASE; FEMALE; HUMANS; HYPOPARATHYROIDISM; INFANT; MULTIENZYME COMPLEXES; PARATHYROID HORMONE;

EID: 33646481048     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-0052-5     Document Type: Article

References (11)

1. Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S (1992) Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 151:121-126
2. Bourdeau A, Souberbielle JC, Bonnet P, Herviaux P, Sachs C, Lieberherr M (1992) Phospholipase-A2 action and arachidonic acid metabolism in calcium-mediated parathyroid hormone secretion. Endocrinology 130:1339-1344
3. Dionisi-Vici C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F (1996) Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129:159-162
4. Ijlst L, Oostheim W, Dionisi-Vici C, Ruiter JPN, Wanders RJA (1998) Molecular basis of MTP deficiency: identification of four new mutations (abstract P129). J Inherit Metab Dis 21:65
5. Iwasaki Y, Mutsuga N, Yamamori E, Kakita A, Oiso Y, Imai T, Funahashi H, Tanaka Y, Kondo K, Nakashima N (2003) Sodium bicarbonate infusion test: a new method for evaluating parathyroid function. Endocr J 50:545-551
6. Jones KH, Fourman P (1963) Edetic-acid test of parathyroid insufficiency. Lancet 2:119-121
7. Kohn BA (1976) The differential diagnosis of cataracts in infancy and childhood. Am J Dis Child 130:184-192
8. Llach F, Felsenfeld AJ, Haussler MR (1981) The pathophysiology of altered calcium metabolism in rhabdomyolysis-induced acute renal failure. Interactions of parathyroid hormone, 25-hydroxycholecalciferol, and 1,25- dihydroxycholecalciferol. N Engl J Med 305:117-123
9. Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22:488-502
10. Tyni T, Rapola J, Palotie A, Pihko H (1997) Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr 131:766-768
11. Wanders RJ, Ijlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray JM (1992) Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun 188:1139-1145