Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.
L-2-Hydroxyglutaric aciduria is a rare inborn error of metabolism, marked by a large and persistent increase of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). We present clinical, biochemical and neuroradiological findings of seven Italian patients aged 4-19 years presenting at different stages of the disease. The disorder was characterized by a progressive neurological syndrome with cerebellar and pyramidal signs, mental deterioration, epilepsy and subcortical leukoencephalopathy on magnetic resonance imaging (MRI). We observed a good correlation between the severity of the disease and the extent of lesions on MRI. We report the result of the first positive prenatal diagnosis.
Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
I
I
Moroni
L
L
D'Incerti
L
L
Farina
M
M
Rimoldi
G
G
Uziel
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000134:cerebrospinal fluid / Q000652:urine*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009431:Neural Conduction; D011296:Prenatal Diagnosis; D013577:Syndrome
D005977:Glutarates; C019417:alpha-hydroxyglutarate