A rare case of Mitochondrial Fatty Acid Oxidation Defect- Systemic Primary Carnitine Deficiency

Dr Manisha Garg,Dr Chanchal Singhal,Dr Khurshida Khan,Dr Sneha Dhruw,Dr Dhananjay Kumar Mangal

doi:10.17511/ijpr.2016.i11.05

Abstract

Systemic primary carnitine deficiency (SPCD) also known as, carnitine transporter deficiency (CTD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy and hypoglycaemia and liver dysfunction. The first suspicion of SPCD in a patient with a non-specific presentation is an extremely low plasma carnitine level, confirmed by demonstrating reduced carnitine transport in skin fibroblasts from the patient. Treatment for SPCD involves high dose carnitine supplementation, which must be continued for life. We report a case of Systemic primary carnitine deficiency with classical clinical & laboratory characteristics.

Highlights

Carnitine is a naturally occurring hydrophilic amino acid derivative, plays an essential role in the transfer of long-chain fatty acids into the mitochondria for betaoxidation [1, 2]
When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction
Systemic primary carnitine deficiency, (SPCD) known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane

Summary

Introduction

Carnitine is a naturally occurring hydrophilic amino acid derivative, plays an essential role in the transfer of long-chain fatty acids into the mitochondria for betaoxidation [1, 2]. Carnitine deficiency may be primary or secondary. Primary carnitine deficiency has a frequency of about 1:40,000 newborns in Japan [6] and 1:37,000-1:100,000 newborns in Australia [7]. In the USA and Europe, the frequency of primary carnitine deficiency has not been defined, but from the reported cases, it seems similar to that in Japan. Systemic examination showed firm liver with sharp margined, liver span was 8 cm, abnormal movements involving both upper limbs and neck and generalised hypotonia, with absent deep tendon reflexes, rest of the examination was normal. Tendom mass spectroscopy of blood showed very low free (2.35 umol/L) and low total carnitine (8.37 umol/L) suggestive of severe carnitine deficiency with normal levels of amino acids. A diagnosis of Systemic primary carnitine deficiency was made. As the patient did not survive so we could not do mutational analysis

Discussion

Findings

Conclusion