Chapter-13 Biochemical Defects

BOOK TITLE: An Introduction to Genetics and Fetal Medicine

1. Jagdeesh Sujata
Publishing Year
Author Affiliations
1. Fetal Care Research Foundation, MediScan, Dr Natesan Road, Mylapore, Chennai, India
Chapter keywords


Human metabolism has two simple steps namely anabolism and catabolism. Anabolism relates to metabolic pathways involved in building up tissues and organs; catabolism relates to enzymatic steps that are involved in breakdown of digestive metabolites. Obviously anabolic errors can present in fetal life, however most of them present in infancy and later childhood because they manifest after a significant build-up of unwanted metabolites, whereas catabolic problems come to light only after a child is born when it loses the placenta-maternal biochemical support. The baby\'s gut is exposed to new substances (milk) and this is the time when anabolism and catabolism can start happening together. Biochemical processes begin, evolve and adapt from fertilization till death. In-depth understanding of many metabolic conditions is made possible by research studies around the globe; knowledge of the rest is still in the nascent phase. Biochemical genetics has largely helped us to understand and look at the inborn errors of metabolism with a new perspective. Enzyme analysis supported with molecular confirmation is seen as the recent approach in diagnosing metabolic disorders. This has increased the confidence of health professionals in formulating accurate plans in management. Genetic errors can be translated as defects in gene products and ultimately result in enzyme deficiencies.

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