Biochemical diagnosis of Canavan disease
Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
1992 |
|---|---|
| Erschienen: |
1992 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:8 |
|---|---|
| Enthalten in: |
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 8(1992), 8 vom: 26. Dez., Seite 468-70 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Bartalini, G [VerfasserIn] |
|---|
| Themen: |
30KYC7MIAI |
|---|
| Anmerkungen: |
Date Completed 23.03.1993 Date Revised 18.09.2019 published: Print Citation Status MEDLINE |
|---|
| Förderinstitution / Projekttitel: |
|
|---|
| PPN (Katalog-ID): |
NLM012696064 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM012696064 | ||
| 003 | DE-627 | ||
| 005 | 20231221053318.0 | ||
| 007 | tu | ||
| 008 | 231221s1992 xx ||||| 00| ||eng c | ||
| 028 | 5 | 2 | |a pubmed24n0043.xml |
| 035 | |a (DE-627)NLM012696064 | ||
| 035 | |a (NLM)1288858 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Bartalini, G |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Biochemical diagnosis of Canavan disease |
| 264 | 1 | |c 1992 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 23.03.1993 | ||
| 500 | |a Date Revised 18.09.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Biomarkers |2 NLM | |
| 650 | 7 | |a Aspartic Acid |2 NLM | |
| 650 | 7 | |a 30KYC7MIAI |2 NLM | |
| 650 | 7 | |a N-acetylaspartate |2 NLM | |
| 650 | 7 | |a 997-55-7 |2 NLM | |
| 650 | 7 | |a Amidohydrolases |2 NLM | |
| 650 | 7 | |a EC 3.5.- |2 NLM | |
| 650 | 7 | |a aspartoacylase |2 NLM | |
| 650 | 7 | |a EC 3.5.1.15 |2 NLM | |
| 700 | 1 | |a Margollicci, M |e verfasserin |4 aut | |
| 700 | 1 | |a Balestri, P |e verfasserin |4 aut | |
| 700 | 1 | |a Farnetani, M A |e verfasserin |4 aut | |
| 700 | 1 | |a Cioni, M |e verfasserin |4 aut | |
| 700 | 1 | |a Fois, A |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery |d 1993 |g 8(1992), 8 vom: 26. Dez., Seite 468-70 |w (DE-627)NLM012695971 |x 1433-0350 |7 nnns |
| 773 | 1 | 8 | |g volume:8 |g year:1992 |g number:8 |g day:26 |g month:12 |g pages:468-70 |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 8 |j 1992 |e 8 |b 26 |c 12 |h 468-70 | ||