<unk>  causes encephalopathy, severe intellectual disabilities, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of<unk>  in cells. It can initially present with polyhydramnios on prenatal ultrasound. Affected neonates may demonstrate nonspecific signs of poor feeding and hypotonia. Laboratory findings in neonates may indicate polycythemia, leukopenia, or neutropenia. As they age, neurological deficits begin to manifest with seizures, dystonias, and severe developmental delay.
Fumarase deficiency
Enolase deficiency
Dihydropyrimidine dehydrogenase deficiency
Glutaminase deficiency
Phosphofructokinase deficiency
Hexokinase deficiency
Aldolase A deficiency
Transaldolase deficiency