Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia.
Propionic acidemia is an inherited disorder caused by a defect of propionyl CoA carboxylase. Untreated, propionic acidemia leads to metabolic decompensation and toxic encephalopathy. We report on the magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings in five children who were properly treated by protein restriction and carnitine supplementation, during a phase of clinically and metabolically stable conditions. The examinations were performed on a whole-body 1.5 T scanner. During the observation period, from 1992 to 1996 we employed long echo time single-voxel spectroscopy and chemical shift imaging in addition to a conventional MRI protocol. The two children with the longest delay before onset of therapy showed cerebral atrophy. MRS yielded elevated lactate peaks in four of the children. These results indicate that MRS can detect metabolic alterations in the brains of children with propionic acidemia during metabolically stable conditions. The presence of lactate could be caused by hampered aerobic oxidation within the citrate cycle due to intracellular elevated propionic metabolites.
Chemelli
A P
AP
Department of Radiology, University of Innsbruck, 6020 Innsbruck, Austria.
Schocke
M
M
Sperl
W
W
Trieb
T
T
Aichner
F
F
Felber
S
S
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D001284:Atrophy / Q000175:diagnosis; D001921:Brain / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D011422:Propionates / Q000378:metabolism*; D012680:Sensitivity and Specificity
D011422:Propionates; C029658:propionic acid