Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1149-1150

  Read, M H ^a   Bonamy, C ^a   Laloum, D ^a   Belloy, F ^a   Constans, J M ^a   Guillois, B ^a   Kottler, M L ^a   Verhoeven, N M ^b   Jakobs, C ^b  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; PHENOBARBITAL;

ACIDURIA; APGAR SCORE; ARTICLE; BRAIN CYST; BRAIN DISEASE; CASE REPORT; CHILD DEATH; CLINICAL FEATURE; ECHOGRAPHY; ELECTROENCEPHALOGRAPHY; EPENDYMA; EUTROPHIA; FEMALE; HUMAN; LABORATORY TEST; LIMB MOVEMENT; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTON NUCLEAR MAGNETIC RESONANCE; SEIZURE;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CYSTS; ELECTROENCEPHALOGRAPHY; FATAL OUTCOME; FEMALE; FUMARATES; GLUTARATES; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MALONATES; MUSCLE HYPOTONIA; SEIZURES; STEREOISOMERISM;

EID: 31644447811     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4565-x     Document Type: Article

References (3)

1. Gibson KM, ten Brink HJ, Schor DS, et al (1993) Stable-isotope dilution of D-2- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D-2- and L-2-hydroxyglutaric acidemias. Pediatr Res 34: 277-280.
2. Muntau AC, Röschinger W, Merckenschlager A, et al (2000) Combined D-2 and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 31: 137-140.
3. van der Knaap MS, Jakobs C, Hoffmann GF, et al (1999) D-2-Hydroxyglutaric aciduria: Further clinical delineation. J Inherit Metab Dis 22: 404-415.