D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy

Journal of Child Neurology

Volumn 15, Issue 7, 2000, Pages 488-492

  Eeg Olofsson, Orvar ^a   Wei Zhang, Wei ^b   Olsson, Yngve ^b   Jagell, Sten ^c   Hagenfeldt, Lars ^d  

^a Section for Pediatrics   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c Gävleborg County Hospital   (Sweden)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID DERIVATIVE;

ACIDURIA; ADOLESCENT; ARTICLE; BRAIN ARTERY ANEURYSM; BRAIN ATROPHY; BRAIN DYSFUNCTION; BRAIN METABOLISM; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; EPILEPSY; HUMAN; HUMAN TISSUE; IRRITABILITY; MALE; MUSCLE DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYLORUS STENOSIS; VASCULAR DISEASE; VASCULAR LESION;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; ATROPHY; BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; GENES, RECESSIVE; GLUTARATES; HUMANS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUSCLE, SKELETAL; NEUROMUSCULAR DISEASES;

EID: 0343628715     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500714     Document Type: Article

References (11)

1. Yudkoff M: Disorders of amino acid metabolism, in Siegel GJ, Agranoff BW, Albers RW, Molinoff PB (eds): Basic Neurochemistry. New York, Raven Press, 1994, pp 813-839.
2. Van der Knaap MS, Jakobs C, Hoffmann GF, et al: D-2 Hydroxyglutaric aciduria. Further clinical delineation. J Inherit Metab Dis 1999;22: 404-413.
3. Van der Knaap MS, Jakobs C, Hoffmann GF, et al: D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? Ann Neurol 1999;45:111-119.
4. Baker NS, Sarnat HB, Jack RM, et al: D-2-Hydroxyglutaric aciduria: Hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. J Child Neurol 1997;12:31-36.
5. Nyhan WL, Shelton DVM, Jakobs C, et al: D-2-hydroxyglutaric aciduria. J Child Neurol 1995;10:137-142.
6. Dubowitz V, Brooke MH, Neville HE: Muscle Biopsy: A Modern Approach. Histological and Histochemical Stains and Reactions, vol 2. Toronto, WB Saunders, 1973, pp 20-33.
7. Chalmers RA, Lawson AM, Watts RWE, et al: D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 1980; 3:11-15.
8. Craigen WJ, Jakobs C, Sekul EA, et al: D-2-Hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatr Neurol 1994;10: 49-53.
9. Sugita K, Kakinuma H, Okajima Y, et al: Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria. Brain Dev 1995;17:139-141.
10. Geerts Y, Renier WO, Bakkeren J, de Jong J: 2-Hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature. J Neurol Sci 1996;143:166-169.
11. Wagner L, Hoffmann GF, Jakobs C: D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity. J Inherit Metab Dis 1998;21:247-250.