HIV In Children
   
 
User Name Password Remember Me
 
 
   
Video Podcast
Audio Cast
Mobile(WAP)
  Pedi Poll  
Should all married couples undergo testing to check if they are thalassemia minor_?
Yes
No
  Translate This Page  
 
CARNITINE DEFICIENCY
Dr Ira Shah
MD, DCH (Gold Medalist), FCPS, DNB

Case Report


one-year female child (only child) born of third degree consanguineous marriage presented with fever and cough since 4 days and breathlessness since 2 days. She had history of recurrent cough, fever and breathlessness since 6 months. On examination, she had tachycardia with heart rate of 160 beats/min and peripheral pulses were feeble. Her respiratory rate was 36/min and blood pressure was low (90/50 mm of Hg). On systemic examination, she had cardiomegaly and heart sounds were muffled with no evidence of murmur. Other systemic examination revealed hepatomegaly. She was diagnosed to be in congestive cardiac failure and suspected to have myocarditis or cardiomyopathy. Her X-ray chest revealed cardiomegaly with increased pulmonary blood flow. A 2D Echo showed non-compacted left ventricle leading to dilated cardiomyopathy. There was evidence of spongy myocardium with Fractional shortening of 10-12% and ejection fraction of 22% with a moderate MR. In view of the 2D Echo findings, a differential diagnosis of inherited cardiomyopathies, BAART syndrome, and inborn errors of metabolism was considered. Both the parents underwent a 2D Echo, which was normal ruling out inherited cardiomyopathy & Barth syndrome. Her S. carnitine was low (2%) and urine dicarboxylic acid was negative. Her blood gases showed metabolic acidosis with bicarbonate of 13.9 MEq/L. She had hyperammonemia [S. NH3 = 218 mcg/dl (Normal = 30-90 mcg/dl)] but her urinary aminoacidogram and plasma aminoacidogram were normal. Her CPK levels and SGOT were normal though serum LDH was slightly elevated [268 IU/L]. Thus, she was diagnosed as carnitine deficiency and treated with ionotropes, vasodilators and carnitine (100mg/kg/day). After 5 days of carnitine, her ejection fraction improved to 36% and Fractional Shortening was 18% and was discharged. After 15 days, the patient was readmitted with fever and cough since 2 days. X-Ray chest showed cardiomegaly and left sided consolidation. Her ejection fraction was 36% and fractional shortening was 60% and her cardiac enzymes (S. CPK, LDH, SGOT) were normal. She was treated with Dobutamine and Intravenous antibiotics. However, the pneumonia worsened and the child died after 5 days.

Discussion


Primary carnitine deficiency (Plasma Membrane Carnitine Transport Defect) is the only genetic defect in which carnitine deficiency is the cause, rather than the consequence of impaired fatty acid oxidation. Patients present with progressive cardiomyopathy at 2-4 years of age with or without skeletal muscle weakness. Infants may have fasting hypoketotic hypoglycemia. The defect is in the plasma membrane sodium dependent carnitine transporter present in the heart, muscle and kidney. This transporter maintains the intracellular carnitine 20 to 50 times higher than plasma concentrations. Patients have extremely reduced carnitine levels in plasma and muscle (1-2% of normal). It is an autosomal recessive disorder and heterozygote parents have plasma levels of carnitine approximately 50% of normal. The fasting urinary organic acid profile may show a hypoketotic dicarboxylic aciduria if hepatic fatty acid oxidation is impaired. The defect in carnitine transport can be demonstrated in vitro by assay of carnitine uptake using cultured fibroblasts or lymphoblasts. Treatment consists of oral carnitine (50-100 mg/kg/day) in pharmacologic doses and it corrects the cardiomyopathy & muscle weakness.

References


  1. Behrman RE, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th edn. Saunders. Philadelphia 2004, pg.436.
Last Updated on 01-02-2005

How to cite this url

Shah I.Carnitine Deficiency.Pediatric Oncall [serial online] 2005 [cited 2005 February 1];2. Available from:
http://www.pediatriconcall.com/fordoctor/casereports/carnitine.asp
 
  Patient Managment  

»  Patient Management

  Grants  
 » Apply For Research Grant
  Search  
Hospitals
Pediatrician
Special Schools
Medical Colleges
Pediatric Residency
Pediatric Conferences
Jobs & Vacancies
Journals
NGO's
  Ped Tools  
Pediatric Calculator
Drug Index
Medical Equipment
Vaccine Reminder
Adverse Drug Reactions
Biochemical Profile
Online MCQ's
Poisoning Center
  Calculators  
+ Growth
+ Conversion
+ Renal
+ Pregnancy
+ Blood Pressure
+ Blood Group
+ Critical Care
+ Drug Dose
+ Diarrhea Solution
+ Reference Values
+ Antibody Test
+ Drug Interaction
 
 
Parent Corner l Kids Corner l Terms & Condition l Privacy Statement | Advertising l Feedback | Awards
Newsletter | About Us l Link to Us l Site Map l Shopping Mall l Media Room  
Partner Sites
 HIV in Children  Infection in Children  Pedcall  Medical ADRIS  Vaccine Reminder  Pediatric Oncall Journal
Health Solutions from our sponsors
 DHA  Surfactant  Nutrition    

Copyright© 2000-2008 All rights reserved with Pediatric Oncall

Disclaimer:The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitue an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.

 
Sitemap For Doctor | Sitemap For Parent | Sitemap For Kids Site designed and maintained by Levioza