A neonate with hyperammonemia

Take-Home Message: Patients with isovaleric acidemia may present in early neonatal life with a sudden onset, severe illness, or may present later in infancy with a chronic intermittent form of the disease. The principle behind the treatment of patients with isovaleric acidemia includes restriction of leucine in their diets and treatment with camitine and/or glycine, both of which conjugate with isovaleric acid to form the non-toxic and easily excreted products-isovalerycamitine and isovalerylglycine. Principal Clinical Findings: Low birth weight, failure to thrive, lethargy, feeding intolerance, strong body odor, dehydration, generalized hypotonia with brisk reflexes and ankle clonus; mild acidosis, hyperglycemia, hypoalbuminemia, hyperammonemia, hypocalcemia, pancytopenia, and hyperargininemia. Most Likely Diagnosis: Isovaleric acidemia (or Isovaleryl-coenzyme A dehydrogenase deficiency; OMIM #243500).