From Childrens
Hospital
A 3-year-old girl
presented with URI.
She was born at
term following an uncomplicated pregnancy, labor, and delivery.
Her parents were
not consanguineous. Her brother
had died of
severe metabolic acidosis at age 1 year and 2 months.
She was admitted
once at age 8 months due to respiratory tract infection.
PE: moderate dehydration
and tachypnea
LAB
CBC: normal
Urine pH: 5 and urine ketone: 4+
Na 139, K 4.6, Cl 109, HCO3-
2, AG 28
BS 77, BUN 8.21, Cr 0.54
ammonia 86 ?M (9-33)
Urine ferric chloride test and urine reducing substance test were negative.