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.
Moroni
I
I
Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.
D'Incerti
L
L
Farina
L
L
Rimoldi
M
M
Uziel
G
G
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