Glutaric aciduria type 1
Incidence
Frequent in Amish population. Also in Arab population.
Clinical Characteristics
Patiens are usually normal until a crisis occur, usually between 6 and 10 months. Mental status tend to be preserved with normal EEG. Extrapyram. Sx (choreo-athet, dystonia) common. Death 15%. Onset infancy to childhood with progressive dystonia or dyskinesia and hypertonia. Also dementia. Tend to have macrocephaly. Have pathological irritability and \"horror face\" when symptomatic. Abnormal CT & MRI often observed before been symptomatic.
Precipitants
Infections, diarrhea, fasting, etc., all increase catabolic state and may trigger a crisis.
Provocation Tests
Lysine loading (100 mg/kg) increases metabolites.(not adviced)
Diagnostic Procedures
EB-F, EB-W, OB-liver. DB-F/W available. Blood tandem MS plus urine GC/MS testing will identify more than 99% of cases.