Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: An unusual association in medium chain Acyl-CoA desydrogenase deficiency (MCADD)

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 12, 2009, Pages 1175-1177

  Baruteau, Julien ^a,b,d   Levade, Thierry ^b,d   Redonnet Vernhet, Isabelle ^c,d   Mesli, Samir ^c,d   Bloom, Marie Claude ^b   Broué, Pierre ^a,d  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b TOULOUSE UNIVERSITY HOSPITAL   (France)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d Centre de Competence des Maladies Hereditaires du Metabolisme du Sud Ouest   (France)

Author keywords

Acyl CoA dehydrogenase; Fatty acids; Hypocalcemia; Hypoparathyroidism; Rhabdomyolysis

Indexed keywords

ACYLCARNITINE; AMINOTRANSFERASE; CARNITINE; GLUCOSE; INSULIN; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ACUTE KIDNEY FAILURE; ARTICLE; CASE REPORT; CHILD; ESSENTIAL FATTY ACID DEFICIENCY; FEMALE; HEPATOMEGALY; HUMAN; HYPOCALCEMIA; HYPOGLYCEMIA; HYPOGLYCEMIC COMA; HYPOPARATHYROIDISM; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MISSENSE MUTATION; PRESCHOOL CHILD; SCREENING; VIREMIA;

EID: 77349116628     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2009.22.12.1175     Document Type: Article

References (5)

1. th Ed. Heidelberg: Springer Medizin Verlag, 2006.
2. Feillet F, Steinmann G, Vianey-Saban C, de Chillou C, Sadoul N, Lefebvre E, et al. Adult presentation of MCAD deficiency revealed by coma and severe arrhythmias. Intensive Care Med 2003; 29: 1594-1597.
3. Motellon JL, Bernis C, Gruss E, Traver JA. Role of parathyroid hormone and 1,25 dihydroxycholecalciferol in calcium homeostasis of rhabdomyolysis. Nephrol Dial Transplant 1995; 10: 299-300.
4. Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO. Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. Eur J Pediatr 2006; 165: 389-391.
5. Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am J Nephrol 2001; 21: 150-153.