Cyclic vomiting syndrome masking a fatal metabolic disease

European Journal of Pediatrics

Volumn 172, Issue 5, 2013, Pages 707-710

  Fitzgerald, Marianne ^a   Crushell, Ellen ^b   Hickey, Caroline ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Cyclical vomiting syndrome; Multiple acyl coenzyme A dehydrogenase deficiency; Raised anion gap metabolic acidosis

Indexed keywords

ANTIEMETIC AGENT; ANTIINFECTIVE AGENT; GLUCOSE;

ABDOMINAL DISEASE; ADULT; ANION GAP; ARTICLE; ARTIFICIAL VENTILATION; ASCITES; CASE REPORT; CRITICAL ILLNESS; DEHYDRATION; FATTY LIVER; FEMALE; FLUID RESUSCITATION; HEART ARREST; HEART VENTRICLE FIBRILLATION; HUMAN; HYPOGLYCEMIA; LIVER FUNCTION TEST; METABOLIC ACIDOSIS; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MULTIPLE ORGAN FAILURE; PRIORITY JOURNAL; RENAL REPLACEMENT THERAPY; RETURN OF SPONTANEOUS CIRCULATION; SINUS TACHYCARDIA; VOMITING;

ACIDOSIS; ADULT; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; VOMITING;

EID: 84876692183     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1852-z     Document Type: Article

References (10)

1. Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF (1998) Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 21(4):326-340
2. Fitzpatrick E, Bourke B, Drumm B, Rowland M (2008) The incidence of cyclic vomiting syndrome in children: population-based study. Am J Gastroenterol 103:991-995
3. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Pálmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, DiMauro S, Prokisch H, Lochmüller H, Horvath R (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130(Pt 8):2037-2044
4. Lee HC, Lai CK, Siu TS, Yuen YP, Chan KY, Chan AY, Tam S, Mak CM, Lam CW (2010) Role of post-mortem genetic testing demonstrated in a case of glutaric aciduria type II. Diagn Mol Pathol 19(3):184-186
5. Li BU, Murray RD, Heitlinger LA, Robbins JL, Hayes JR (1998) Heterogeneity of diagnoses presenting as cyclic vomiting. Pediatrics 102(3 Pt 1):583-587
6. Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen EJ (2010) Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. Inherit Metab Dis 33(5):495-500
7. McLoughlin LM, Trimble ER, Jackson P, Chong SK (2004) L-Carni-tine in cyclical vomiting syndrome. Arch Dis Child 89(12):1180
8. Olsen RKJ et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045-2054
9. Rinaldo P (1999) Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome. Dig Dis Sci 44(8 Suppl):97S-102S
10. Van Calcar SC, Harding CO, Wolff JA (2002) L-Carnitine administration reduces number of episodes in cyclic vomiting syndrome. Clin Pediatr (Phila) 41(3):171-174