0071643192.pdf

PEDIATRICS

SYMPTOMS/EXAM

Symptoms are often detected on newborn screening. Infants may present with

lethargy, vomiting, and poor feeding and growth.

DIAGNOSIS

Suspected cases should have plasma amino acids and urine organic acids sent.

■ Anion gap metabolic acidosis

■ Hypoglycemia

■ Ketosis

■ Mild hyperammonemia

TREATMENT

■ Avoidance of protein

■ Intravenous infusion of high dextrose-containing solution (such as D10)

with addition of bicarbonate if acidotic

■ IV carnitine (detoxifying agent)

UREACYCLEDEFECTS

Characterized by hyperammonemia without significant acidosis. The most

common form is OTC (ornithine transcarbamylase) deficiency.

SYMPTOMS/EXAM

Irritability and/or lethargy

DIAGNOSIS

■ Elevated ammonium level

■ Urine organic acid screen

TREATMENT

Protein restriction

A 6-month-old infant presents in the morning to the ED with mild

lethargy. The mother states that he has had a minor URI recently and has

not fed since late last night. Laboratory evaluation reveals a glucose of 39;

UA shows absent glucose and absent ketones. What is the likely diagnosis?

Fatty acid oxidation defect.

FATTYOXIDATIONDISORDERS

Most common manifestation is nonketotic hypoglycemia, which usually occurs

during a period of fasting or stress.

DIAGNOSIS

■ Hypoglycemia

■ Urinalysis, if obtained concomitantly, will show a lack of ketones, which is

inappropriate in the setting of hypoglycemia.