Step 1. Recognize the Symptoms »

 

How old is the patient?

Neonate/Infant
Child/Adult 

 

Recognize the signs and symptoms of hyperammonemia in the NEONATE/INFANT1



Early Onset

Altered level of consciousness (ALOC)

From somnolence and lethargy to coma

hypotonia temperature instability

Hypotonia

Temperature instability

vomiting poor feeding irritability

Vomiting

Poor feeding

Irritability

seizures cerebral edema respiratory distress

Seizures

Cerebral edema

Respiratory distress

 

Thinking Sepsis?

Think About IEM (Inborn Errors of Metabolism).

Initial symptoms of hyperammonemia may be non-specific and are often ascribed as sepsis.

IMPORTANT! Ammonia Is Not Part of Routine Sepsis Lab Workups1

Hence, you need to think about checking for ammonia in sick neonates with suspected sepsis.  

 

Recognize the signs and symptoms of hyperammonemia in the CHILD/ADULT3,4

If hyperammonemia is present and lab results do not show liver failure/liver disease, it is probably a late onset presentation of an Inborn Error of Metabolism (IEM).

Neurological Presentations

vision loss psychomotor retardation with episodic headaches

Vision loss

Psychomotor retardation with episodic headaches

coma altered level of consciousness

Coma

Altered level of consciousness

bizarre behavior combative unusual

Bizarre behavior

Combative behavior

Unusual behavior

seizures

Seizures

 

Think Metabolic

Especially anyone with Altered Levels of Consciousness (ALOC) or Altered Mental Status and No Signs of Liver Disease.

Gastrointestinal Presentations

chronic vomiting paroxysmal vomiting

Chronic vomiting

Paroxysmal vomiting

abdominal pain

Abdominal pain

protein aversion anorexia

Protein aversion

Anorexia

hepatomegaly

Hepatomegaly

Think Metabolic 

If hyperammonemia is present and lab results do not show liver failure/liver disease, it is probably a late onset presentation of an Inborn Error of Metabolism (IEM).

IMPORTANT!

TRIGGERING Factors of Acute Hyperammonemic Attacks
Many previously healthy individuals do not know they have an IEM until they have an acute hyperammonemic attack. Unfortunately, these attacks are associated with significant morbidity and mortality. And these attacks are often precipitated by the following triggering factors:

  • Surgery: Bariatric Surgery2
  • Medication/Medication Associated with Surgical Procedures (i.e. valproic acid and corticosteroids)3,4
  • Protein Overload3,4
  • Infection5
  • Stress: Childbirth6

References:

  1. Vergano SA, et al. Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab. 2013;110(1-2):102-105.
  2. Fenves A, et al. Fatal hyperammonemic encephalopathy after gastric bypass surgery. Am J. Med. 2008; 121(1):e1-e2. 
  3. Summar M, et al. Unmasked adult onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005 Oct;21 (4 Suppl): S1-8.
  4. Haberle J et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases 2012, 7(32): 1-30. 
  5. McGuire PJ/ Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders. J Pediatr. 2013 Dec;163(6):1705-171 
  6. Celik O, et al. Ornithine transcarbamylase deficiency diagnosed in pregnancy. Gynecol Endocrinol. 2011;27(12):1052-1054.

 

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