l-Glutaric Acidemia: Investigation of a Patient and His Family

摘要: A 5-month-old infant had an unusual combination of clinical signs and symptoms. These consisted irritability, dystonia, lack head control, grimacing, opisthotonos, choreoathetoid movements, delayed development, severe metabolic acidosis. Metabolic investigation by gas-liquid chromatography/mass spectrometry detected urinary organic acids. This confirmed the diagnosis L-glutaric aciduria. The concentration acid in patient's plasma was 2.5 mg/dl (normal range, 0 to 0.1 mg/dl), urine 4.6 mg/mg creatinine 0.05 creatinine), but not elevated infant's parents nor two other family members. No glutaryl-CoA dehydrogenase activity found leukocytes taken from patient. Three four members, including parents, demonstrated 38%, 42%, 42% activity, respectively, compared with normal controls. findings are consistent autosomal recessive disorder involving metabolism crotonyl-Co-a. Dietary restriction instituted on separate occasions. First, a low protein diet 1.6 gm/kg body weight per day given, then lysine intake 50 mg/kg/day. dietary manipulations caused decrease concentrations beta-hydroxyglutaric acid. However, no effect manifestations disease noted.