If these babies do not receive management for the metabolic diseases, they may die undiagnosed, or the death may be wrongfully attributed to sepsis or other common causes. Therefore metabolic screening is very important especially for patients in whom the diagnosis is unknown. Poor feeding, vomiting, hypotonia, lethargy, failure to thrive, seizures, coma and unusual odor. Intolerance to feeding, failure to thrive, developmental delay, episodic ataxia, hypotonia, spastic paraparesis, learning and behavior disorder, liver disease, renal tubular dysfunction, susceptible to infectious disease, metabolic acidosis, hypoglycemia, hyperammoniemia. The pattern will be shown on a chromotagram and on a tabulated form.
Clinical information is an integral part of laboratory diagnosis.
The amnio acid screening will be available by March 1, 1999. However, samples for amnio acid screening or other metabolic screenings or biochemical genetic disorders, such as lysosomal storage disorders, carbohydrate disorders, etc. We will provide service to locate testing center and assist in interpreting the results. Specimen collection is a very important step in the detection of metabolic disorders. In acutely ill patients, blood and urine specimens on admission are likely to be most revealing and most appropriate for amnio acid screening.