Problem:
A three and half year old boy presented to the ER with hypoglycemia. the patient had been admitted previously following episodes of altered conciousness and seizure activity. the patient would consistently display muscle weakness, hepatomegaly, congestive heart failure, and elevations of AST ALT and creatine kinase. the child was born to non-consanguineous parents from chihuaha, mexico after an uncomplicated pregancy and deliver. a brother had died at 3 months of age of a liver probelm after an unexplained coma. the parents and other sibling were well. growth retardation and failure to reach develpmental milestones were noted. diagnostic brain scans and chromosomal studies were unremarkable. normal serum levels of electrolytes, calcium, phosphorous, magnesium, bilirubin, thyroid and growth hormone were found. immune function was normal as was serum protein and properties of cerebrospinal fluid. organic acids were not detected in the eurine