Differential Diagnosis
References: Hyperammonemia of the newborn- Dr. Paul Hwu,
National Taiwan University, Taipei, Taiwan
MANY ILL NEWBORNS WITH UREA CYCLE
DISORDERS16
ARE MISDIAGNOSED AS HAVING SEPSIS.
Sepsis vs Urea Cycle
Disorder 17, 18, 19, 20, 21, 22, 23 |
||
| Sepsis | Urea Cycle Disorders | |
| Risk Factors | Inherited |
|
| Onset symptoms | <24 hrs. in 85% of cases | Over 24 hours |
| Platelet count | <100,000 | Normal |
| C-reactive protein | Up in first 24 hours | Normal |
| I/T neutrophil ratio | >0.16 | <0.16 |
| Liver enzymes | Normal | Mildly elevated |
| Blood chemistries | NH4+ normal | NH4+>150 |
| Altered consciousness | Possible | Likely |
| CBC | WBC up (>10,000) | Normal |
Download Sepsis vs UCD in pdf format
Differential diagnosis of hyperammonemia
UCD
Liver bypass/liver insufficiency
Organic acid disorders
Fatty acid oxidation defects
Reye syndrome
Valproate therapy
Hypovolemic shock
Transient hyperammonemia of the newborn
Hyperornithinenia, hyperammonemia, homocitrullinuria syndrome
Herpes simplex infection
Hyperammonemia/hyperinsulinemia syndrome
Mitochondrial myopathies, pyruvate carboxylase deficiency, pyruvate dehydrogenase
deficiency
Lysinuric protein intolerence
Perinatal asphyxia
Congestive heart failure
Asparaginase treatment
Infection with urease-positive bacteria
References:
13. Tuchman, Mendel, MD and Batshaw, Mark, MD “Management of inherited disorders of ureagenesis”, The Endocrinologist, 2002, Vol. 12, p. 99-109.
16. Summar, Marshall, MD and Tuchman, Mendel, MD, “Proceedings of a consensus conference for the managaement of patients with urea cycle disorders” Journal of Pediatrics, Vol. 128, No. 1, p. S6-10.
17. Summar, Marshall, MD and Tuchman, Mendel, MD, “Proceedings of a consensus conference for the managaement of patients with urea cycle disorders” Journal of Pediatrics, Vol. 128, No. 1, p. S6-10.
18. Summar, Marshall, MD, “ Current strategies for the management of neonatal urea cycle disorders” Journal of Pediatrics, Vol. 128, No. 1, January 2001, p. S30-39.
19. Belling, Linda, RN NNP, “Neonatal sepsis”, eMedicine, June 23, 2004 http://www.emedicine.com/ped/topic2630.htm (January 19, 2005)
20. Summar, Marshall, MD and Tuchman, Mendel, MD “Urea cycle disorders overview” Gene Reviews April 29, 2003 http://www.genetests.org (May 4, 2005)
21. Steiner, Robert, MD and Cederbaum, Stephen, MD “Laboratory evaluation of urea cycle disorders” Journal of Pediatrics, 2001,Vol. 128, No. 1, p. S21-29.
22. Tuchman, Mendel, MD and Summar, Marshall, MD, “Consensus statement from a conference for the management of patients with urea cycle disorders” Journal ofPediatrics, 2001, Vol. 128, No.1, p. S1-S5.
23. Batshaw, Mark, MD, Mac Arthur, RB, Pharm.D, & Tuchman, Mendel, MD” Alternative pathway therapy for urea cycle disorders: Twenty years later” Journal ofPediatrics, 2001, Vol. 128, No. 1, p. S46-S55.