Literature DB >> 3116332

N-acetylaspartic aciduria due to aspartoacylase deficiency--a new aetiology of childhood leukodystrophy.

L Hagenfeldt1, I Bollgren, N Venizelos.   

Abstract

We describe a male infant with psychomotor retardation and leukodystrophy who excretes large quantities of N-acetylaspartate in his urine. A high CSF/plasma concentration ratio of N-acetylaspartate indicates that this substance originates in the brain. Fibroblasts from the patient are deficient in aspartoacylase activity. It is proposed that the dysmyelination in the patient may be due to failure of N-acetylaspartate to serve as a carrier of acetyl groups from mitochondria to the cytosol for lipogenesis.

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Year:  1987        PMID： 3116332     DOI： 10.1007/bf01800038

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  18 in total

1.  The excitation and depression of spinal neurones by structurally related amino acids.

Authors:  D R CURTIS; J C WATKINS
Journal:  J Neurochem       Date:  1960-09       Impact factor: 5.372

2.  N-acetyl-L-aspartic acid content of human neural tumours and bovine peripheral nervous tissues.

Authors:  J V Nadler; J R Cooper
Journal:  J Neurochem       Date:  1972-02       Impact factor: 5.372

3.  Studies on the function of N-acetyl aspartic acid in brain.

Authors:  J C McIntosh; J R Cooper
Journal:  J Neurochem       Date:  1965 Sep-Oct       Impact factor: 5.372

4.  Determination of protein: a modification of the Lowry method that gives a linear photometric response.

Authors:  E F Hartree
Journal:  Anal Biochem       Date:  1972-08       Impact factor: 3.365

5.  The occurrence of N-acetylaspartate amidohydrolase (aminoacylase II) in the developing rat.

Authors:  A F D'Adamo; J C Smith; C Woiler
Journal:  J Neurochem       Date:  1973-04       Impact factor: 5.372

6.  N-Acetylation of L-aspartate in the nervous system: differential distribution of a specific enzyme.

Authors:  M E Truckenmiller; M A Namboodiri; M J Brownstein; J H Neale
Journal:  J Neurochem       Date:  1985-11       Impact factor: 5.372

7.  Concentrations of organic acids in the urine of healthy newborn children.

Authors:  J Alm; L Hagenfeldt; A Larsson
Journal:  Ann Clin Biochem       Date:  1978-09       Impact factor: 2.057

8.  N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.

Authors:  E A Kvittingen; G Guldal; S Børsting; I O Skalpe; O Stokke; E Jellum
Journal:  Clin Chim Acta       Date:  1986-08-15       Impact factor: 3.786

9.  Synthesis of N-acetyl-L-aspartate by rat brain mitochondria and its involvement in mitochondrial/cytosolic carbon transport.

Authors:  T B Patel; J B Clark
Journal:  Biochem J       Date:  1979-12-15       Impact factor: 3.857

10.  Lipogenesis in the brain of suckling rats. Studies on the mechansim of mitochondrial-cytosolic carbon transfer.

Authors:  T B Patel; J B Clark
Journal:  Biochem J       Date:  1980-04-15       Impact factor: 3.857
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  32 in total

1.  Prenatal diagnosis of Canavan disease.

Authors:  R Matalon; K Michals; P Gashkoff; R Kaul
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid.

Authors:  P Divry; C Vianey-Liaud; C Jakobs; H J ten-Brink; J Dutruge; R Gilly
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Canavan disease: findings in four new cases.

Authors:  H Michelakakis; S Giouroukos; P Divry; E Katsarou; M O Rolland; A Skardoutsou
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 4.  N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.

Authors:  John R Moffett; Brian Ross; Peethambaran Arun; Chikkathur N Madhavarao; Aryan M A Namboodiri
Journal:  Prog Neurobiol       Date:  2007-01-05       Impact factor: 11.685

Review 5.  Clinical applications involving CNS gene transfer.

Authors:  Boris Kantor; Thomas McCown; Paola Leone; Steven J Gray
Journal:  Adv Genet       Date:  2014       Impact factor: 1.944

6.  Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.

Authors:  R I Kelley; J N Stamas
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

7.  Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.

Authors:  M J Bennett; K M Gibson; W G Sherwood; P Divry; M O Rolland; O N Elpeleg; P Rinaldo; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

Authors:  R Matalon; R Kaul; J Casanova; K Michals; A Johnson; I Rapin; P Gashkoff; M Deanching
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

9.  Long-term follow-up after gene therapy for canavan disease.

Authors:  Paola Leone; David Shera; Scott W J McPhee; Jeremy S Francis; Edwin H Kolodny; Larissa T Bilaniuk; Dah-Jyuu Wang; Mitra Assadi; Olga Goldfarb; H Warren Goldman; Andrew Freese; Deborah Young; Matthew J During; R Jude Samulski; Christopher G Janson
Journal:  Sci Transl Med       Date:  2012-12-19       Impact factor: 17.956

10.  Magnetic resonance imaging in juvenile Canavan disease.

Authors:  P B Toft; R Geiss-Holtorff; M O Rolland; O Pryds; W Müller-Forell; E Christensen; W Lehnert; H C Lou; D Ott; J Hennig
Journal:  Eur J Pediatr       Date:  1993-09       Impact factor: 3.183
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