A neonate with hyperammonemia

Dinesh Rakheja, Michael B. Bober, Susan L. Fisher, Patricia M Jones

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)292-295+288
JournalLaboratory medicine
Issue number5
StatePublished - May 2005


  • Gas chromatography/mass spectrometry
  • Hyperammonemia
  • Isovaleric acidemia

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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