Background: Inborn errors of metabolism (IEMs) are a group of genetically determined disorders caused by mutant genes that in turn produce abnormal enzyme to affect metabolism of a nutrient and a significant association has been found between mental retardation and IEMs. The present study was conducted on mentally retarded children to diagnose IEM using a panel of simple biochemical tests to be confirmed by various chromatographic techniques.Methods: The study was done on 300 mentally retarded children admitted for treatment in the Paediatric Department, Govt R. M. Hospital, Thanjavur. Complete clinical history was collected in a predesigned proforma. 50 ml of urine samples was collected from each patient in a clean sterilized bottle and analysed for a series of biochemical tests using a standard protocol. All the observations were collected and analysed.Results: Male dominance was seen in the study (65.3%). Out of 300, 93 children (31%) of the total were with the family history of consanguinity and the of rest 201 (69%) cases of non-consanguinity, delayed labour was found to be more common (50%). 4 children were affected with metabolic disorders (1.33%) i.e. 1 case was with phenyl ketonuria and other 3 cases with mucopolysaccharidoses.Conclusions: The study identified four cases of IEM in the mentally – retarded children with underlying molecular defects and also paved a path to save the children in the case of phenylketonuria by the treatment i.e. diet low in phenyl alanine.

Background: Mycoplasma pneumoniae and Chlamydia pneumoniae are atypical pathogens responsible for community acquired pneumonia (CAP) and are a leading cause of morbidity and mortality in low income countries. The study objective was to determine the prevalence of C. pneumoniae and M. pneumonia in hospitalized children with CAP.Methods: This study was performed on ninety-four children admitted with radiologically confirmed diagnosis of pneumonia in Government Rajah Mirasudar Hospital, Thanjavur, during the period of July 2005 to April 2006. The diagnosis of infections with C. pneumonia and M. pneumonia was determined by detection of IgM antibody by using ELISA method. In this study clinical and radiological feature of these infections were also looked for.Results: Among 94 children, 9 children (9.6%) were detected positive for M. pneumonia and 8 children (8.5%) were detected positive for C. pneumonia. Infection rate was highest among 5-12 years and least among 1 month to 24 months age group. The most common symptoms observed in patients with these pathogens are cough, fever, crepitations and rhonchi. Pulmonary infiltrates were the most common chest X-ray features of both C. pneumoniae pneumonia and M. pneumoniae pneumonia.Conclusions: This study has shown that C. pneumonia and M. pneumonia play a significant role in paediatric CAP. Identification and confirmation of these organisms by IgM ELISA helps in better management that would decrease the need for hospitalization and IV antibiotics.