INTRODUCTION:
Inborn errors of metabolism are the hereditary diseases which occurs due to disturbances in normal biochemical process. Although individual diseases are rare, they collectively cause significant amount of morbidity and mortality. The term INBORN ERRORS OF METABOLISM first being used by Sir ARCHIBALD GERROD in 1902. The disorders he initially described were Pentosuria, Alkaptonuria, Albinism and Cystinuria. After that in 1934, FOLLING described about
Phenylketonuria. As IEM’s have been known for more than 100 years along with newer diagnostic tools and techniques now more than 500 IEM’s are uncovered.
AIM AND OBJECTIVES:
To determine the clinical spectrum of Inborn Errors of Metabolism in children in a tertiary care hospital – Institute of child health and Hospital for children, Chennai, South India.
MATERIALS AND METHODS:
STUDY DESIGN:
Observational study
STUDY POPULATION:
Children in study age group admitting in general paediatric ward.
PLACE OF STUDY:
Paediatric Medical ward in Institute of Child Health and Hospital For Children, Chennai.
STUDY PERIOD:
APRIL 2018 TO OCTOBER 2019.
SAMPLE SIZE:
Sixty five children (admitted consecutively in Institute of Child Health & Hospital for Children with Inborn Errors of Metabolism were included in my study).
INCLUSION CRITERIA:
All children diagnosed to have Inborn Errors of Metabolism in Institute of Child health & Hospital for Children, Chennai.
EXCLUSION CRITERIA:
Children with Inborn errors of Metabolism diagnosed and started treatment outside.
CONCLUSION:
· Totally 65 children diagnosed to have Inborn errors of metabolism.
· Of that 65 cases, 27 were carbohydrate metabolism, 16 were protein metabolism, 22 were lipid metabolism.
· In carbohydrate metabolism 4 cases were Pompe’s disease, 16 cases were Glycogen storage disorders other than pompe’s disease, 6 cases were Mucopolysacchridosis, 1 case was galactosemia.
· In protein metabolism Aminoaciduria 5, organic aciduria 8, urea cycle defect 3 cases were diagnosed.
· Lipid metabolism includes 8 cases of Niemann-Pick disease, 5 cases of Gauchers disease, 3 cases of Tay- Sach’s disease, 3 cases of GM1 Gangliosidosis, 3 cases of Krabbe’s disease.
· Mean age of presentation was 37 months with minimum of 2 months to maximum of 10 years of age.
· Most common clinical manifestations were Poor feeding (67.7%), Fever (64.6%), Dyspnea (63.1%), Abdominal distention (63.1%) followed by seizure (40%). Dysmorphic facies, Developmental delay, Regression of milestones
also manifested with 35%, 27.7%, 18.5% respectively.
· Abnormal liver function test in 44,6% cases, hypoglycemia in 30% cases, metabolic acidosis in 36% cases, hyperammonemia in 27.7% cases, lactic acidosis in 36% cases were observed, which helped for further diagnosis.
· Of these 65 children mortality was observed in 10 cases (15%). In this carbohydrate metabolism was 8%, protein and lipid 4% and 3% respectively
