A case of early diagnosed carnitine deficiency presenting with respiratory symptoms

Annals of Nutrition and Metabolism

Volumn 51, Issue 4, 2007, Pages 331-334

  Erguven, Muferet ^a   Yilmaz, Oznur ^a,b   Koc, Seher ^a   Caki, Suar ^a   Ayhan, Yusuf ^a   Donmez, Metin ^a   Dolunay, Gulderen ^a  

^a GOZTEPE TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b NONE   (Turkey)

Author keywords

Cardiomyopathy; Carnitine deficiency; Carnitine supplementation; Hypoketotic hypoglycemic encephalopathy; Primary carnitine deficiency

Indexed keywords

ACYLCARNITINE; CARNITINE; CREATINE KINASE;

ARTICLE; CARDIOMEGALY; CARNITINE DEFICIENCY; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; COUGHING; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; FEMALE; HUMAN; INFANT; LUNG PERFUSION; LUNG SCINTISCANNING; MICROCYTIC ANEMIA; MUSCLE CELL; NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PULMONARY ARTERY; RESPIRATORY DISTRESS; RESPIRATORY TRACT DISEASE; THORAX RADIOGRAPHY; WHEEZING;

CARDIOMYOPATHY, DILATED; CARNITINE; DIAGNOSIS, DIFFERENTIAL; DIETARY SUPPLEMENTS; FEMALE; HUMANS; INFANT; PROGNOSIS; RESPIRATORY TRACT INFECTIONS; TREATMENT OUTCOME;

EID: 34548831939     PISSN: 02506807     EISSN: None     Source Type: Journal    
DOI: 10.1159/000107675     Document Type: Article

References (23)

1. Seim H, Eichler K, Kleber H: L (-)-Carnitine and its precursor, γ-butyrobetaine; in Kramer K, Hoppe P, Packer L (eds): Nutraceuticals in Health and Disease Prevention. New York, Dekker, 2001, pp 217-256.
2. Pons R, DeVivo DC: Primary and secondary carnitine deficiency syndromes. J Child Neurol 1995;10:8-24.
3. Koizumi A, Nozaki JI, Ohura T, Kayo T, Wada Y, Nezu JI, Ohashi R, Tamai I, Shoji Y, Takada G, Kibira S, Matsuishi T, Tsuji A: Genetic epidemiology of the carnitine transporter OCTN2 gene in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet 1999;8:2247-2254.
4. Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa JI, Shimane M, Tsuji A: Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 1999;21:91-94.
5. Lahjouji K, Mitchell GA, Qureshi IA: Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Genet Metab 2001;73:287-297.
6. Scaglia F, Longo N: Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol 1999;23:152-161.
7. Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A: Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem 1998;273:20378-20382.
8. Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. J Pharmacol Exp Ther 1999;290:1482-1492.
9. Wu X, Prasad PD, Leibach FH, Ganapathy V: cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun 1998;246:589-595.
10. Tang NL, Ganapathy V, Wu X et al: Mutations of OCTN2, an inorganic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum Mol Gen 1999;8:943.
11. Lamhonwah AM, Olpin SE, Pollitt RJ, et al: Novel OCTN2 mutations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 2002;111:271-284.
12. Arrigoni-Martelli E, Caso V: Carnitine protects mitochondria and removes toxic acyls from xenobiotics. Drugs Exp Clin Res 2001;27:27-49.
13. Rebouche CJ: Carnitine;in Shils ME, Olson JA, Shike M, Ross AC (eds): Nutrition in Health and Disease, ed 9. Baltimore, Williams & Wilkins, 1999, pp 505-512.
14. Scholte HR, Rodrigeus Pereira R, de Jonge PC, Luyt-Houwen IE, Hedwig M, Verduin M, Ross JD: Primary carnitine deficiency. J Clin Chem Clin Biochem 1990;28:351-357.
15. Roe CR, Coates PM: Mitochondrial fatty acid oxidation disorders;in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995, pp 1501-1533.
16. Breningstall GN: Carnitine deficiency syndromes. Pediatr Neurol 1990;6:75-81.
17. Boles RG, Buck EA, Blitzer MG, et al: Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first years of life. J Pediatr 1998;132:924-933.
18. Lombes A, Herve F, Ogier H, et al: Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology. Arch Fr Pediatr 1987;44:569-578.
19. Winter SC, Szabo-Aczel S, Curry CJ, Hutchinson HT, Hogue R, Shug A: Plasma carnitine deficiency. Clinical observations in 51 pediatric patients. Am J Dis Child 1987;141:660-665.
20. Vikre-Jorgensen J: Cardiomyopathy caused by carnitine deficiency. Ugeskr Læger 1993;155:3390-3392.
21. Squarcia U, Agnetti A, Caffarra A, Cavalli C, Marbini A: Dilated cardiomyopathy due to primary carnitine deficiency . Pediatr Med Chir 1986;8:157-161.
22. Hou JW: Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. Chang Gung Med J 2002;25:832-837.
23. Von Petrykowski W, Ketelsen UP, Schmidt-Sommerfield E, et al: Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies. Clin Neuropathol 1985;4:63-71.