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 childhood illnesses and delaying consideration of metabolic disorders. Even when appropriately suspected, ordering physicians may be unfamiliar with important biochemical interrelationships and the appropriate diagnostic tests to order, occasionally leading to inappropriate sample collection and storage. Absence of acute metabolic decompensation (e.g., hyperammonemia, hypoglycemia, overwhelming metabolic acidosis, and anion gap) does not necessarily rule out an inherited metabolic disease. Consultation and coordination with a licensed clinical biochemical genetics laboratory helps insure that appropriate tests are ordered, the correct samples are obtained, and the limitations of the testing scheme are clearly defined prior to metabolic work-up. © 2010 Springer-Verlag Berlin Heidelberg.
Inherited Metabolic Diseases: A Clinical Approach
Inherited Metabolic Diseases: A Clinical Approach, 263-281.
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