Multiple sclerosis and intracellular cobalamin defect (
MMACHC
Multiple sclerosis
PRDX1
cblC
cblC, cobalamin deficiency type C
homocysteine, hcy
magnetic resonance imaging, MRI
methylmalonic acid, MMA
multiple sclerosis, MS
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
18
11
2019
revised:
19
12
2019
accepted:
21
12
2019
entrez:
27
2
2020
pubmed:
27
2
2020
medline:
27
2
2020
Statut:
epublish
Résumé
Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine. The latter is considered to be a risk factor for multiple sclerosis (MS). We report on the first case of a patient with comorbid cblC defect and MS. This young male presented at the age of 14 with a relapsing-remitting neurological disorder associated with imaging alterations suggestive of MS. Treatment resulted in a partial clinical improvement with vanishing of white matter lesions. Later on, the emergence of unexpected clinical features led to a metabolic work-up, revealing a cobalamin intracellular defect. Genetic analysis disclosed a single variant in While the comorbid association of MS and cblC in our patient may remain anecdotic, we suggest measuring Hcy and MMA levels in young patients with a relapsing-remitting demyelinating disorder, in order not to miss a cblC defect, that requires a specific and effective treatment.
Sections du résumé
BACKGROUND
BACKGROUND
Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine. The latter is considered to be a risk factor for multiple sclerosis (MS). We report on the first case of a patient with comorbid cblC defect and MS.
CASE REPORT
METHODS
This young male presented at the age of 14 with a relapsing-remitting neurological disorder associated with imaging alterations suggestive of MS. Treatment resulted in a partial clinical improvement with vanishing of white matter lesions. Later on, the emergence of unexpected clinical features led to a metabolic work-up, revealing a cobalamin intracellular defect. Genetic analysis disclosed a single variant in
DISCUSSION
CONCLUSIONS
While the comorbid association of MS and cblC in our patient may remain anecdotic, we suggest measuring Hcy and MMA levels in young patients with a relapsing-remitting demyelinating disorder, in order not to miss a cblC defect, that requires a specific and effective treatment.
Identifiants
pubmed: 32099815
doi: 10.1016/j.ymgmr.2019.100560
pii: S2214-4269(19)30209-5
pii: 100560
pmc: PMC7026611
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100560Informations de copyright
© 2019 The Authors.
Références
Nat Commun. 2018 Feb 2;9(1):554
pubmed: 29396438
J Inherit Metab Dis. 2017 Jan;40(1):21-48
pubmed: 27905001
Mult Scler Relat Disord. 2017 Oct;17:190-197
pubmed: 29055456
Free Radic Biol Med. 2008 Aug 1;45(3):256-64
pubmed: 18452719
Ther Adv Neurol Disord. 2019 Aug 24;12:1756286419872115
pubmed: 31489032
J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):107-8
pubmed: 8558138
J Inherit Metab Dis. 2019 Mar;42(2):333-352
pubmed: 30773687
Ann Neurol. 2001 Mar;49(3):396-400
pubmed: 11261516
Trends Mol Med. 2017 Jun;23(6):546-562
pubmed: 28478950
Mult Scler. 2003 Jun;9(3):239-45
pubmed: 12814169
N Engl J Med. 1988 Jun 30;318(26):1738-41
pubmed: 2897628