Publication Type:

Conference Paper

Source:

INTERNATIONAL CONFERENCE ON NEUROSCIENCE UPDATES ISN, APSN, IBRO & SNCI (2009)

URL:

https://www.researchgate.net/publication/204603798_NEUROMETABOLIC_DISORDERS_IN_CHILDREN

Keywords:

Neurometabolic disorders., Organic acidemia, Organic acids, Organic aciduria

Abstract:

<p>&nbsp;</p>

<p><strong>Background </strong></p>

<p>Neurometabolic disorders are transmitted as autosomal recessive traits. The&nbsp;most prevalent symptoms were delayed development, mental&nbsp;retardation,lethargy, seizures, poor feeding, and failure to thrive.Positive family history and&nbsp;consanguinity are important predisposing factors</p>

<p><strong>Objectives</strong></p>

<ol>
<li>Diagnosis of neurometabolic disorders in 570 patien&nbsp;ts with signs and&nbsp;symptoms.</li>
<li>Quantification of amino acids and organic acids by HPLC</li>
</ol>

<p><strong>Methodology</strong></p>

<p>570 children (upper age limit 12 years) having symptoms suggestive of&nbsp;Neurometabolic Disorders were selected from Amrita Institute of Medical&nbsp;Sciences and Research Centre during January 2008 to Sept&nbsp;ember 2009. Manual&nbsp;screening tests and TLC were used to detect the presence of abnormal&nbsp;metabolites in urine. HPLC was done for amino acids and organic acids using&nbsp;standard protocols. CT/MRI were used to evaluate brain abnormalities.</p>

<p><strong>Results</strong></p>

<p>Out of the 570 patients screened, 48 cases were positive.15 cases of&nbsp;Methylmalonic aciduria, and in 16 cases of propionic aciduria, 12 cases of Maple&nbsp;syrup urine disease, 2 cases of alkaptonuria, 2 cases of Nonke<br />
totichyperglycinemia and one case of isovaleric aciduria were found. Commom signsand symptoms were seizures (N=12), delayed milestones (N=12), poor feeding(N=29), Lethargy (N= 4), metabolic acidosis (N= 42), an<br />
d mental retardation(N=12). 15 patients expired during the study. Brain abnormalities were detected&nbsp;in 11 patients.Conclusion&nbsp;Methylmalonic aciduria, Propionic aciduria and maple syrup urine disease&nbsp;accounted for 90% of neurometabolic disorders detected. Prompt diagnosis&nbsp;allowed specific treatment in majority of these patients&nbsp;with rapid improvement.</p>

<p>&nbsp;</p>

<p><strong>Conclusion </strong></p>

<p>Methylmalonic aciduria, Propionic aciduria and maple syrup urine disease&nbsp;accounted for 90% of neurometabolic disorders detected. Prompt diagnosis&nbsp;allowed specific treatment in majority of these patients&nbsp;with rapid improvement.</p>

<p>&nbsp;</p>

Cite this Research Publication

N. M. P, Vaidyanathan, K., and Dr. Damodaran Vasudevan, “NEUROMETABOLIC DISORDERS IN CHILDREN”, in INTERNATIONAL CONFERENCE ON NEUROSCIENCE UPDATES ISN, APSN, IBRO & SNCI, 2009.

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