Urine dip will be positive for non–glucose-reducing substances, that is, positive Clinitest, and have negative or trace of glucose with glucose oxidase strip, that is, Clinistix or Glucostix CBC will reveal hemolysis Electrolytes may be remarkable for hyperchloremic metabolic acidosis due to renal tubular dysfunction LFTs are expected to reveal markedly elevated bilirubin level, initially indirect and after to weeks direct, alkaline phosphate and mild to moderately elevated AST and ALT, and markedly elevated PT and PTT Given that most patients present as neonates, those with a known diagnosis will likely have received the diagnosis based on NBS Definitive diagnosis requires measurement of erythrocyte enzyme activity, and particularly in patients with less severe presentation, it may reveal more benign forms Management In addition to correction of dehydration, metabolic derangements, and infection, treatment requires complete lifelong exclusion of galactose from the diet In neonates, breast milk and cow milk must be replaced with lactose-free soy formula, (e.g., Nutramigen, Pregestimil) Even when galactose-free diet is initiated early, those who survive the neonatal period often have developmental delay or learning disabilities Disorders of Carbohydrate Production or Utilization Glycogen Storage Disorders Goals of Treatment Treatment goals specific for glycogen storage disorders are to correct hypoglycemia if present and provide supportive care for organ dysfunction or failure most notably for GSD II heart and liver, GSD IV liver, GSD V renal Current Understanding Glycogen storage disorders are due to defects in glycogen synthesis, degradation, or regulation GSD 0, I, III, IV, VI, IX, which primarily involve liver, and GSD II, which involves skeletal and cardiac muscle, account for the vast majority of cases in the United States and Europe Clinical Considerations Assessment GSD is the most likely to result in acute decompensation, usually due to hypoglycemia during intercurrent illness when patients are unable to take cornstarch, the mainstay of therapy Presentation is similar to that for fatty acid oxidation defects Patients with GSD I, III, VI, IX may also present with symptoms of hypoglycemia Hepatomegaly is seen with GSD 0, I, III, IV, VI, IX Manifestations of skeletal muscle involvement include weakness and potentially renal failure due to rhabdomyolysis Depending on type, other findings can include cardiomyopathy, cardiac arrhythmias, hemolysis, and jaundice Laboratory findings, depending on the organ systems involved, may include hypoglycemia, elevated liver transaminases, ketosis, elevated CPK, myoglobinuria, elevated BUN, creatinine, anemia, neutropenia, coagulopathy, elevated LDH and bilirubin EKG may reveal arrhythmia or findings consistent with cardiomegaly Management Correction of hypoglycemia with glucose and glucose-containing fluids is the same as for fatty acid oxidation defects Enzyme replacement therapy is now available for a subset of GSDs NEONATE WITH POSITIVE NEWBORN SCREEN CLINICAL PEARLS AND PITFALLS