Mild elevation of N-acetylaspartic acid and macrocephaly: Diagnostic problem

Journal of Child Neurology

Volumn 18, Issue 11, 2003, Pages 809-812

  Surendran, Sankar ^a   Bamforth, Fiona J ^b   Chan, Alicia ^b   Tyring, Stephen K ^a   Goodman, Stephen I ^c   Matalon, Reuben ^a  

^a University of Texas Medical Branch School of Medicine   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; ASPARTOACYLASE; COMPLEMENTARY DNA; CYSTEINE; DNA; DRUG DERIVATIVE; N ACETYLASPARTIC ACID; N-ACETYLASPARTATE; TYROSINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BASAL GANGLION; BRAIN; CANAVAN DISEASE; CASE REPORT; CEREBRAL BLINDNESS; CONCENTRATION (PARAMETERS); CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; DNA ISOLATION; DNA SPLICING; ENZYME ACTIVITY; ENZYME DEFECT; EXON; GENE DELETION; GENE EXPRESSION; GENETICS; HUMAN; MACROCEPHALY; MALE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION; SKIN FIBROBLAST; URINARY EXCRETION; URINE;

EID: 0142065924     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738030180111601     Document Type: Article

References (21)

1. Globus JH, Strauss I: Progressive degenerative subcortical encephalopathy (Schilder's disease). Arch Neurol Psychiatry 1928;20:1190-1228.
2. Canavan MM: Schilder's encephalitis periaxialis diffusa. Arch Neurol Psychiatry 1931;25:299-308.
3. Adachi M, Torii J, Schneck L, Volk BW: Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Betrand type). Acta Neuropathol (Berl) 1972;20:22-31.
4. Adornato BT, O'Brien JS, Lampert PW, et al: Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins. Neurology 1972;22:202-210.
5. Matalon R, Michals-Matalon K: Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Front Biosci 2000;5:D307-311.
6. van Bogaert L, Bertrand I: Sur une idiotie familiale avec degenerescence sponglieuse de neuraxe (note preliminaire). Acta Neurol Belg 1949;49:572-587.
7. Matalon R, Michals K, Sebesta D, et al: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988;29:463-471.
8. Gordon N: Canavan disease: A review of recent developments. Eur J Paediatr Neurol 2001;5:65-69.
9. Birnbaum SM: Amino acid acylases I and II from hog kidney. Methods Enzymol 1955;2:115-119.
10. Birnbaum SM, Levintow L, Kingsley RB, Greenstein JP: Specificity of amino acid acylases. J Biol Chem 1952;194:455-462.
11. Tallan HH, Moore S, Stein WH: N-Acetyl-L-aspartic acid in brain. J Biol Chem 1956;219:257-264.
12. Matalon R, Kaul R, Casanova J, et al: SSIEM Award. Aspartoacylase deficiency: The enzyme defect in Canavan disease. J Inherit Metab Dis 1989;12(Suppl 2):329-331.
13. Grodd W, Krageloh-Mann I, Peterson D, et al: In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy. Lancet 1990;336:437-438.
14. Goodman SI, Markey SP: Diagnosis of organic acidemias by gas chromatography-mass spectrometry. New York, Alan R. Liss, 1981.
15. Kelley RI: Prenatal detection of Canavan disease by measurement of N-acetyl L-aspartate in amniotic fluid. J Inherit Metab Dis 1993; 16:918-919.
16. Matalon R, Michals K, Kaul R: Canavan disease: From spongy degeneration to molecular analysis. J Pediatr 1995;127:511-517.
17. Kaul R, Gao GP, Michals K, et al: Novel (cys152>arg) missense mutation in Arab patient with Canavan disease. Hum Mutat 1995;5:269-271.
18. Matalon R, Michals-Matalon K: Biochemistry and molecular biology of Canavan disease. Neurochem Res 1999;24:507-513.
19. Kaul R, Gao GP, Aloya M, et al: Canavan disease: Mutations among Jewish and non-Jewish patients. Am J Hum Genet 1994;55:34-41.
20. Propheta O, Magal N, Shohat M, et al: A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing. Eur J Hum Genet 1998;6:635-637.
21. Alford RL, DeMarchi JM, Richards CS: Frequency of a DNA polymorphism. at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population. Hum Mutat 1998;Suppl 1:S161-S162.