Hereditary fatty acid metabolic defects in children: Diagnosis and treatment
The authors provide the data available in the literature and their findings on the identification of childhood fatty acid metabolic defects, a group of severe hereditary diseases characterized by high mortality, predominant involvement of the central nervous system, heart, and liver. They also give a classification of the diseases and analyze their clinical features and biochemical markers for the diagnosis of pathology. The authors show it necessary to employ the techniques of tandem mass-spectrometry, gas chromatography - chroma-tographic mass-spectrometry to identify the form of the disease. They also single out risk groups, primarily those to be examined for the above diseases: children (including the newborns) with recurrent vomiting, hypomyotonia, flaccidity, drowsiness, cardiomyopathy, cardiac arrhythmia, hepatic enlargement and dysfunction. The effective dietary and drug therapy options are presented.