Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare hereditary disorder of the CNS catabolism of gamma-aminobutyric acid (GABA), leading to accumulation of the metabolite 4-hydroxybutyrate (GHB). Here the authors report on 1.5 and 3.0 T proton MR spectroscopy in a patient with SSADH deficiency. A characteristic pattern with clearly elevated GABA levels and traces of GHB was found in both the white and the gray matter of the brain. In vivo spectroscopy may be useful for diagnosis and monitoring SSADH deficiency.
Ethofer
T
T
Section on Experimental MR of the CNS, Department of Neuroradiology, University of Tübingen, Germany.
Seeger
U
U
Klose
U
U
Erb
M
M
Kardatzki
B
B
Kraft
E
E
Landwehrmeyer
G B
GB
Grodd
W
W
Storch
A
A
D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D001921:Brain / Q000201:enzymology / Q000378:metabolism; D005808:Genes, Recessive; D018698:Glutamic Acid / Q000378:metabolism; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D009069:Movement Disorders / Q000201:enzymology / Q000235:genetics; D011237:Predictive Value of Tests; D011522:Protons; D012016:Reference Values; D012640:Seizures / Q000201:enzymology / Q000235:genetics; D013064:Speech Disorders / Q000201:enzymology / Q000235:genetics; D050644:Succinate-Semialdehyde Dehydrogenase; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
D006885:Hydroxybutyrates; D011522:Protons; D005973:Glutamine; C111420:4-hydroxybutyric acid; D018698:Glutamic Acid; D005680:gamma-Aminobutyric Acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase