Types & causes of metabolic disorders in newborns - Dr. Chandra Kumar N of Cloudnine Hospitals

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Metabolic disorders are due to deficiency of a particular enzyme which is necessary to convert a metabolite in the body to a different metabolite, that is you have to break down the food which the baby eats. If the baby is drinking milk, it will have protein, fat and carbohydrate. So each and every energy source has to be broken down and be eliminated by the body. So it has to be used or the synthesis purpose or the storage purpose and the energy derived from the metabolite is used for body building and other activates and the remaining breakdown products are eliminated by thee body. If the body has deficiency of any of the enzymes which is involved in these multiple steps, this breakdown or synthesis cannot happen in the body, which results in accumulation of abnormal metabolites or deficiency of some essential metabolites. So this excess of one metabolite or deficiency of the other metabolite results in the various manifestations or various manifestation sin the baby, which can present as metabolic disease in the newborn. Usually these metabolic diseases are genetically acquired. So there may be different forms of inheritance. So the inheritance means the baby gets these diseases by different mutations. So parents can be the carrier of such diseases and this can affect the baby subsequently. So based on the mode of inheritance, the severity with which the baby or the number of babies whether all the babies would be affected, or only few babies would be affected would depend on the mode of inheritance of these metabolic diseases. So the types of metabolic diseases can be grouped under three major categories, which is something related to carbohydrate metabolism, protein metabolism and fat metabolism These three are the major groups, in addition there are other metabolic diseases which affect thee other systems also, for example we have what we call as the nucleic acid in our DNA and RNA. So there can be some abnormalities related to these nucleic acids also. So there can be some abnormalities in the RBC’s where the haemoglobin is there. The heme synthesis also there can be abnormalities which results in a set of metabolic problems. So metabolic problems can occur in almost every system in the body and they have wide variety of presentations and the causes mainly being genetic and it is often inherited from one of the parents or it can be a denovo new mutation which happens in that person for the first time and may not have occurred in the family prior to that particular child.