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Key Facts The classic presentation of inborn errors of metabolism is with a free period of apparent health that may last days or even years, but it is followed by overwhelming life threatening disease. The episode usually follows catabolism introduced usually by acute infection; sometimes after surgery. Initial laboratory evaluation needs only the routine clinical...
Key Facts Evidence for the presence of an inherited metabolic disease may often be derived from detailed clinical evaluation of the patient and examination of the family history (Nyhan et al. 2005). Important stumbling blocks in identifying an inherited metabolic disease include the fact that signs and symptoms are often nonspecific, leading to initial testing to exclude routine...
Key Facts Enzyme functions in a particular metabolic pathway are best described by Km and Vmax values. The central parameter in metabolic flux analysis is that of control strength, alternatively called flux control coefficient. It is described by the flux control coefficient which is set between 0 and 1. A flux control coefficient of 1 means that...
Key Facts Mutation studies have become an important component in the diagnostic work-up of patients, but their use should be balanced with other (phenotypic) diagnostic methods. Molecular analyses have a limited sensitivity as some disease-causing mutations are usually missed by standard methods, and failure to identify a diagnostic genotype may not necessarily exclude a diagnosis...
Key Facts Neurometabolic single organelle-multiorgan disorders, i.e., lysosomal, peroxisomal, polyg-lucosan, and mitochondrial disorders warrant biopsies for morphological (and often biochemical by direct tissue and/or indirect fibro-blast culture) studies. Tissues suitable for biopsies are lymphocytes, skin, conjunctiva, skeletal muscle, rectum, and liver. Different...
Key Facts Lactate elevations in blood, CSF, or urine or frank lactic acidosis are a hallmark of disorders of energy metabolism, more specifically respiratory chain disorders, disorders of oxidative phosphorylation, mitochondrial disorders, or mitochondriopathies. These can involve any organ at any age. Organs commonly affected include muscle, brain, retina, extraocular muscles,...
Key Facts All cases of sudden and unexpected death in childhood should be evaluated for a possible underlying metabolic disorder A history of “normal” newborn screening for metabolic disorders is not a sufficient reason to decline post-mortem evaluation Most important specimens to collect at autopsy are blood and bile, spotted on filter paper
Key Facts The fasting test has been partly superseded by improved diagnostic methods such as acylcar—nitine analysis. Remaining indications include the differentiation of disorders of gluconeo—genesis from those with defective oxidation of pyruvate in patients with lactic academia; diagnostic work—up in patients with recurrent episodes of symptomatic ketonemia, recurrent cyclic vomiting,...
Key Facts Carrier tests should not be performed in asymptomatic children unless there is a medical consequence of the result for the tested individual in childhood. Standard invasive procedures required for prenatal analysis of inborn errors of metabolism have risk of abortion of 0.5–1%. Chorionic villus biopsy is the method of choice for DNA-based prenatal tests...
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