[Inborn disorders of amino acid metabolism as etiologic factors in progressive encephalopathy in the early neonatal period].
The authors report three cases of neonates with severe, progressive encephalopathy provoked by congenital disturbances of amino acid metabolism (hyperglycinemia, citrulinemia, and hyperamoniemia type: II). The occurrence of convulsions is particularly pointed out, because they are the most indicative signs of brain damage manifested in the first seven days of life.
Branković
D
D
Karović
D
D
Jovanović
R
R
Sindić
V
V
Erac
O
O
Ganović
R
R
Tomović
S
S
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001927:Brain Diseases / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012640:Seizures / Q000209:etiology
Urodeni poremećaji metabolizma aminokiselina kao etiolŏski faktor progresivne encefalopatije u ranom neonatalnom periodu.