Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

摘要: We have diagnosed type I glutaric aciduria (GA-I) in 14 children from 7 Old Order Amish families Lancaster County, Pennsylvania. An otherwise rare disorder, GA-I appears to be a common cause of acute encephalopathy and cerebral palsy among the Amish. The natural history disease, which was previously unrecognized this population, is remarkably variable ranges infantile sudden death static extrapyramidal normal adult. Ten patients first manifested disease between 3 18 months at time an infectious illness. Four these died early childhood, also during illnesses. However, there has been little progression neurological after age 5 years surviving intellect usually preserved, even with severe spastic paralysis. When well, plasma acid concentrations ranging 4.8 14.2 mumol/liter (nl 0-5.6 mumol/liter) urinary 12.5 196 mg/g creatinine 0.5-8.4 creatinine). found that can by measurement using isotope-dilution gas chromatography/mass spectrometry, whereas diagnosis easily missed routine urine organic chromatography.(ABSTRACT TRUNCATED AT 250 WORDS)