Role of early intervention in a family of affected siblings with suspected mitochondrial disorder

Kamath, Saritha U and Bhaskaranand, Nalini and Rao, Anjali (2014) Role of early intervention in a family of affected siblings with suspected mitochondrial disorder. World Journal of Pharmaceutical Researech, 3 (2). pp. 2226-2231. ISSN 2277 – 7105

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Abstract

It is important to diagnose and treat inborn errors of metabolism (IEM) patients early as some disorders cause irreversible neurodamage. As most of the disorders are autosomal recessive having 25% chance of recurrence, study of family history may give valuable information. Mitochondrial disorder is a common IEM which may have myopathy as sole or main symptom. The symptoms are mainly because of deficiency of energy production. Diagnosis requires biochemical and molecular analyses which are not easily available, not affordable or not reliable. As there is no single serum biomarker for diagnosis, picking the respiratory chain disorder is challenging. Here we are discussing about a male baby born to consanguineous parents having two affected siblings with possible respiratory chain defect. Blood investigation revealed metabolic acidosis, elevated lactate and lactate: pyruvate ratio. With this background considered patient was suspected to have respiratory chain disorder and treated with Thiamine and Riboflavin which has prevented possible neurodamage.

Item Type: Article
Uncontrolled Keywords: Mitochondrial disorder, lactate: pyruvate ratio, thiamine, riboflavin.
Subjects: Allied Health > MCOAHS Manipal > Medical Laboratory Tech
Medicine > KMC Manipal > Biochemistry
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 12 Mar 2014 04:21
Last Modified: 12 Mar 2014 04:21
URI: http://eprints.manipal.edu/id/eprint/139086

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