A neonate with hyperammonemia

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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)
JournalLaboratory Medicine
Volume36
Issue number5
DOIs
StatePublished - May 2005

Fingerprint

Isovaleryl-CoA Dehydrogenase
Hyperammonemia
Odors
Nutrition
Dehydration
Leucine
Glycine
Newborn Infant
Hyperargininemia
Genetic Databases
Failure to Thrive
Hypoalbuminemia
Lethargy
Pancytopenia
Muscle Hypotonia
Hypocalcemia
Low Birth Weight Infant
Acidosis
Ankle
Hyperglycemia

Keywords

  • Gas chromatography/mass spectrometry
  • Hyperammonemia
  • Isovaleric acidemia

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Pathology and Forensic Medicine

Cite this

A neonate with hyperammonemia. / Rakheja, Dinesh; Bober, Michael B.; Fisher, Susan L.; Jones, Patricia M.

In: Laboratory Medicine, Vol. 36, No. 5, 05.2005.

Research output: Contribution to journalArticle

Rakheja, Dinesh ; Bober, Michael B. ; Fisher, Susan L. ; Jones, Patricia M. / A neonate with hyperammonemia. In: Laboratory Medicine. 2005 ; Vol. 36, No. 5.
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