Abstract

3 Methylcrotonyl glysinuria (3-MCG) is an otosomal ressesively inherited metabolic disease caused by the deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase. Clinical signs show a wide range with seizures, hypotonia and acidosis during newborn period. Asymptomatic cases diagnose at rutine metabolic screening were also reported. Our case with poor sucking and fever at the second day of life hospitalized with the diagnosis of sepsis had mix acidosis, apnea, seizures and needed mechanical ventilation.

3-hydroxyisovalerylcarnitine was detected at Tandem MS examination. 3-hydroxyisovaleric acid and 3-methylcrotonylglycine secretion was high in the urine organic acid examination. Simultaneous plasma total and free carnitine levels were undetectable. His seizures were refractory to all antiepileptic drugs but was controlled with levetiracetam. In infants with hypotonia and intractable convulsions 3-MCG should be considered. Although we have limited experience, a new generation antiepileptic levetiracetam can be a good choice in intractable seizures of newborns.