Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly

Deswal, Shivani; Bijarnia-Mahay, Sunita; Manocha, Vinamr; Hara, Keiichi; Shigematsu, Yosuke; Saxena, Renu; Verma, Ishwar; Verma, Ishwar C
January 2017
Indian Journal of Pediatrics;Jan2017, Vol. 84 Issue 1, p83
Academic Journal
journal article
No abstract available.


Related Articles

  • Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity. MALIK, SUSHMA; PALDIWAL, ASHUTOSH ABHIMANYU; KORDAY, CHARUSHEELA SUJIT; JADHAV, SHRUTI SUDHIR // Journal of Clinical & Diagnostic Research;Oct2015, Vol. 9 Issue 10, p1 

    Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and...

  • Carnitine Transporter Deficiency.  // Iranian Journal of Child Neurology;Autumn2013, Vol. 7 Issue 4, p14 

    The article offers information on the etiology of primary carnitine deficiency or carnitine transporter deficiency. A defect in carnitine transport across plasma membrane is said to cause the inborn error of fatty acid transportation. Primary carnitine deficiency impairs the entry of long-chain...

  • Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Magoulas, Pilar L; El-Hattab, Ayman W // Orphanet Journal of Rare Diseases;2012, Vol. 7 Issue 1, p68 

    Abstract: Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of...

  • Carnitine Metabolism and Deficit - When Supplementation is Necessary? A. Evangeliou; D. Vlassopoulos // Current Pharmaceutical Biotechnology;Jun2003, Vol. 4 Issue 3, p211 

    Carnitine is an ammo acid derivative found in high energy demanding tissues (skeletal muscles, myocardium, the liver and the suprarenal glands). It is essential for the intermediary metabolism of fatty acids. Carnitine is indispensable for �-oxidation of long-chain fatty acids in the...

  • Literature Reviews: Genetics. Lampe, John B.; Schafer, Irwin A. // Clinical Pediatrics;Oct2001, Vol. 40 Issue 10, p580 

    Provides a genetic molecular basis for the clinical picture seen in patients with primary systemic carnitine deficiency (SCD). Description of the novel transporter protein OCTN2; Biochemical clues to the diagnosis of SCD; Cause of carnitine deficiency in children.

  • Hyperammonemic Encephalopathy Caused by Carnitine Deficiency. Limketkai, Berkeley N.; Zucker, Stephen D. // JGIM: Journal of General Internal Medicine;Feb2008, Vol. 23 Issue 2, p210 

    Carnitine is an essential co-factor in fatty acid metabolism. Carnitine deficiency can impair fatty acid oxidation, rarely leading to hyperammonemia and encephalopathy. We present the case of a 35-year-old woman who developed acute mental status changes, asterixis, and diffuse muscle weakness....

  • Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Koizumi, Akio; Nozaki, Jun-ichi; Ohura, Toshihiro; Kayo, Tsuyoshi; Wada, Yasuhiko; Nezu, Jun-ichi; Ohashi, Rikiya; Tamai, Ikumi; Shoji, Yutaka; Takada, Goro; Kibira, Satoshi; Matsuishi, Toyojiro; Tsuji, Akira // Human Molecular Genetics;Nov99, Vol. 8 Issue 12, p2247 

    Studies the genetic epidemiology of carnitine transporter genes in Japanese populations with primary systemic carnitine deficiency. Causes of sudden infant death syndrome; Prevalence; Risk factors associated with cardiac complications in juvenile heterozygotes; Complications.

  • 3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. Visser, Gepke; Suormala, Terttu; Smit, G. Peter A.; Reijngoud, Dirk-Jan; Bink-Boelkens, Margreet Th. E.; Niezen-Koning, Klary E.; Baumgartner, E. Regula; Visser, G; Suormala, T; Smit, G P; Reijngoud, D J; Bink-Boelkens, M T; Niezen-Koning, K E; Baumgartner, E R // European Journal of Pediatrics;2000, Vol. 159 Issue 12, p901 

    Unlabelled: Three affected members of one family, each with a different clinical presentation of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency are described. The index patient presented at 7 weeks of age with feeding difficulties, sweating and...

  • Carnitine Membrane Transporter Deficiency: A Rare Treatable Cause of Cardiomyopathy and Anemia. Cano, Aline; Ovaert, Caroline; Vianey-Saban, Christine; Chabrol, Brigitte // Pediatric Cardiology;Jan2008, Vol. 29 Issue 1, p163 

    Carnitine transporter defect is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes the high-affinity carnitine transporter OCTN2. Affected patients can present with predominant metabolic or cardiac manifestations. Early recognition of this disorder in a context...

  • Deficitul de carnitină – cauză de cardiomiopatie dilatativă la copil. Olteanu, Carmen Cristina; Pedretti, Ettore; Privitera, Giuseppa // Romanian Journal of Cardiology;Mar2012, Vol. 22 Issue 1, p53 

    We present a case of a six years old girl with muscular pain. The imaging findings esthablished the diagnosis of dilated cardimyopathy. Cardiomyopathies may be idiopathic or secondary to an underlying systemic disorder (especially in a young population). Taking one by one the majority of...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics