title: Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.
abstract: Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The second patient was diagnosed at the age of 1.5 mo when she became comatose after nasogastric tube feeding because of failure to thrive. The third patient was diagnosed at the age of 5 d when she presented with feeding difficulties, hypotonia, and respiratory insufficiency. Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy. In the patient with choreoathetosis, MRI showed bilateral abnormalities in the signal intensity of the putamen and caudate nuclei. MRI of the other two patients showed normal basal ganglia. Proton magnetic resonance spectroscopy (1H MRS) from a voxel located in the basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of glutamine/ glutamate. The presence of spectroscopic abnormalities in a stable metabolic condition, in particular the rise in glutamine/ glutamate, indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid.
authors.affiliation: Department of Metabolic Diseases, University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: Bergman
authors.forename: M S
authors.initials: MS
authors.lastname: Van der Knaap
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: J
authors.initials: J
authors.lastname: Valk
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood*; D001479:Basal Ganglia / Q000473:pathology*; D002262:Carboxy-Lyases / Q000172:deficiency*; D016022:Case-Control Studies; 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; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000097:blood*; D011522:Protons
chemical_list: D011422:Propionates; D011522:Protons; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid