Neonatal GA-II
is characterized by severe hypoglycemia, metabolic acidosis, hypotonia, heart disease,
hepatomegaly, and, frequently, an odor of “sweaty feet.” Often fatal during the
first week of life. Milder forms (late-onset glutaric acidemia type II) do not display
congenital anomalies, and symptoms usually
consist of intermittent episodes of nausea and vomiting, lethargy, weakness,
and liver enlargement. Acute episodes of hypoglycemia may be extremely
severe, often after infection, exercise, or any form of stress (including
surgery). The ethylamonic adipicaciduria form is characterized by distinctive
congenital malformations (e.g., pulmonary hypoplasia, facial dysmorphism) and severe
hypoglycemia. Vascular lesions of the skin (petechiae, ecchymoses), acrocyanosis and
retinal lesions have been described. Prolonged diarrhea may occur. Respiratory failure
may precede death.