Skip to main content

Metabolic Diseases in Acidotic Newborns, Pediatric

Noura Al Dhaheri, MBBS, Hilary Vernon, MD, PhD and Leah R. Fleming, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • Metabolic acidosis is a common acute presentation of an inborn error of metabolism (IEM), particularly in the presence of elevated anion gap. Acidosis can also be seen as a result of...

DIAGNOSIS

HISTORY

  • Pregnancy history: maternal HELLP syndrome; acute fatty liver of pregnancy; preeclampsia; reduced fetal movements; intrauterine growth retardation (IUGR); fetal bradycardia

  • Family hist...

TREATMENT

GENERAL MEASURES

  • Stop feeding.

  • Provide 6 to 10 mg/kg/min dextrose (typically as D10 at 1.5 to 2 times maintenance rate).

    • If considering pyruvate dehydrogenase deficiency, use lower dextrose inf...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Refer to a biochemical genetics team for ongoing evaluation and management.

  • Generally, patients will require frequent monitoring in the newborn p...

ADDITIONAL READING

  • Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics.  1998;102(6):E69. [View Abstract on OvidInsights]

  • Cook P, Walker V. Investigation of the chi...

CODES

ICD9

  • 775.7 Late metabolic acidosis of newborn

  • 277.89 Other specified disorders of metabolism

  • 270.6 Disorders of urea cycle metabolism

  • 271.8 Other specified disorders of carbohydrate transport and me...

FAQ

  • Q: What factors determine developmental outcome in children with IEMs?

  • A: The specific diagnosis and patient mutation, how rapidly appropriate therapy is initiated, frequency of decompensating, and...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.

×