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diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...

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the month of ramadan, as a model of intermittent fasting, is a valuable opportunity to investigate the effects of dietary modifications on human metabolism. fasting improves insulin sensitivity, reduces atherogenic risk, oxidative stress, and inflammation. inflammation plays a key role in the pathogenesis of different disorders including atherosclerosis, metabolic syndrome and cardiovascular di...

because of the high rate of consanguineous marriages, metabolic disorders, both micromolecular and macromolecular types, are very prevalent in our population. they constitute a very important health problem in this community. they are mostly an enzymopathy or genetic disease. most of them are the result of a homozygous or compound heterozygous mutation in many different genes which are responsi...