MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency

American Journal of Neuroradiology

Volumn 19, Issue 2, 1998, Pages 378-382

  Van Der Knaap, M S ^a   Bakker, H D ^b   Valk, J ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE;

ARTICLE; BRAIN CORTEX ATROPHY; CASE REPORT; CHILD; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPOGLYCEMIA; MALE; MENTAL DEFICIENCY; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PROTON NUCLEAR MAGNETIC RESONANCE; VISUAL IMPAIRMENT; WHITE MATTER;

AMINO ACID METABOLISM, INBORN ERRORS; ASPARTIC ACID; ATROPHY; BRAIN; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; CHOLINE; CONSANGUINITY; CREATINE; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INOSITOL; LEUCINE; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; OXO-ACID-LYASES;

EID: 0032471373     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Gibson KM, Breuer J, Kaiser K, et al. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J Inherit Metab Dis 1988;11:76-87
2. Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 1988;148:180-186
3. Thompson GN, Chalmers RA, Halliday D. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. Eur J Pediatr 1990;149:346-350
4. Ozand PT, Al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H. 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis 1991;14:174-188
5. Gibson KM, Cassidy SB, Seaver LH, et al. Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis 1994;17:291-294
6. Ferris NJ, Tien RD. Cerebral MRI in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: case report. Neuroradiology 1993;35: 559-560
7. Gordon K, Riding M, Camfield P, Bawden H, Ludman M, Bagnell P. CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. AJNR Am J Neuroradiol 1994;15:1474-1476
8. Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Ann Neurol 1986;20:367-369
9. Lisson G, Leupold D, Bechinger D, Wallesh C. CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase. Neuroradiology 1981;22:99-101
10. Leupold D, Bojasch M, Jakobs C. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis. Eur J Pediatr 1982;138:73-76
11. Van der Knaap MS, Valk J. Magnetic Resonance of Myelin, Myelination and Myelin Disorders. Heidelberg, Germany: Springer; 1995
12. Spar JA, Lewine JD, Orrison WW. Neonatal hypoglycemia: CT and MR findings. AJNR Am J Neuroradiol 1994;15:1477-1478
13. Anderson JM, Milner RDG, Strich SJ. Effects of neonatal hypoglycemia on the nervous system: a pathological study. J Neurol Neurosurg Psychiatry 1967;30:295-310
14. Baker AB. Cerebral lesions in hypoglycemia. Arch Pathol 1938;26: 765-776
15. 31P Magnetic resonance spectroscopy of the brain in degenerative cerebral disorders. Ann Neurol 1992;31:202-211
16. 1H MRS choline: correlation with in vitro chemistry/histology. Life Sci 1996;58: 1929-1935
17. Kruse B, Hanefeld F, Christen HJ, et al. Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol 1993;241:68-71