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Overview of X-linked adrenoleukodystrophy in Morocco: results of the implementation of the program of clinical and biological diagnosis.

Abstract X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease, due to mutations in the ABCD1 gene. It manifests as a damage to the central and peripheral nervous system, adrenal insufficiency and testicular damage in children. Diagnosis is based on the determination of long-chain saturated fatty acids. Early diagnosis is essential because it defines treatment accessibility according to disease stage.
PMID
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Authors

Mayor MeshTerms

Health Services Accessibility

Keywords

X-linked adrenoleukodystrophy

diagnosis

long-chain saturated fatty acids

Journal Title the pan african medical journal
Publication Year Start




PMID- 29599883
OWN - NLM
STAT- MEDLINE
DCOM- 20180405
LR  - 20180405
IS  - 1937-8688 (Electronic)
VI  - 28
DP  - 2017
TI  - [Overview of X-linked adrenoleukodystrophy in Morocco: results of the
      implementation of the program of clinical and biological diagnosis].
PG  - 185
LID - 10.11604/pamj.2017.28.185.11086 [doi]
AB  - Introduction: X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative
      disease, due to mutations in the ABCD1 gene. It manifests as a damage to the
      central and peripheral nervous system, adrenal insufficiency and testicular
      damage in children. Diagnosis is based on the determination of long-chain
      saturated fatty acids. Early diagnosis is essential because it defines treatment 
      accessibility according to disease stage. Methods: We implemented a X-ALD
      diagnostic test program in Morocco at the Children's Hospital and at the Central 
      Laboratory for inherited and metabolic diseases in Rabat. The program was based
      around three priorities, namely: the recruitment of patients, diagnosis and
      awareness. Diagnosis is based on three protocols: a protocol for symptomatic
      cases, a protocol for asymptomatic cases and a protocol for heterozygous women.
      Results: During the first three years after implementation of our X-ALD
      diagnostic test program, we diagnosed the disease in seven families, with nine
      boys and three heterozygous women. All children were diagnosed with demyelinating
      brain. All heterozygous women were asymptomatic. Different symptom-based
      therapies were established. Conclusion: X-ALD is a rare disease. Our diagnostic
      program has helped to diagnose a significant number of cases, hence its
      importance. Campaigns focused on raising awareness among health care
      professionals will enable a better understanding of the disease and a more
      accurate diagnosis as well as to improve access to health care for a higher
      number of patients.
FAU - Benjelloun, Fatima-Zohra Madani
AU  - Benjelloun FM
AD  - Unite de Neuropediatrie, Service de Pediatrie II, Hopital d'Enfants de Rabat,
      Maroc.
AD  - Laboratoire de Biochimie, Centre d'Etude des Maladies Hereditaires du
      Metabolisme, CHU Ibn Sina Rabat, Maroc.
AD  - Faculte de Medecine et de Pharmacie de Rabat, Maroc.
FAU - Chabraoui, Layachi
AU  - Chabraoui L
AD  - Laboratoire de Biochimie, Centre d'Etude des Maladies Hereditaires du
      Metabolisme, CHU Ibn Sina Rabat, Maroc.
AD  - Faculte de Medecine et de Pharmacie de Rabat, Maroc.
FAU - Kriouile, Yamna
AU  - Kriouile Y
AD  - Unite de Neuropediatrie, Service de Pediatrie II, Hopital d'Enfants de Rabat,
      Maroc.
AD  - Faculte de Medecine et de Pharmacie de Rabat, Maroc.
LA  - fre
PT  - Journal Article
TT  - Developpement d'un programme multidisciplinaire de diagnostic de
      l'adrenoleucodystrophie liee a l'X au Maroc: resultats de la mise en oeuvre du
      programme de diagnostic clinique et biologique.
DEP - 20171030
PL  - Uganda
TA  - Pan Afr Med J
JT  - The Pan African medical journal
JID - 101517926
RN  - 0 (ABCD1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1)
SB  - IM
MH  - ATP Binding Cassette Transporter, Sub-Family D, Member 1/*genetics
MH  - Adolescent
MH  - Adrenoleukodystrophy/*diagnosis/genetics/physiopathology
MH  - Adult
MH  - Brain/*pathology
MH  - Child
MH  - Child, Preschool
MH  - Early Diagnosis
MH  - Female
MH  - *Health Services Accessibility
MH  - Humans
MH  - Male
MH  - Morocco
MH  - Mutation
MH  - Program Development
PMC - PMC5871254
OTO - NOTNLM
OT  - X-linked adrenoleukodystrophy
OT  - diagnosis
OT  - long-chain saturated fatty acids
EDAT- 2018/03/31 06:00
MHDA- 2018/04/06 06:00
CRDT- 2018/03/31 06:00
PHST- 2016/11/02 00:00 [received]
PHST- 2017/10/15 00:00 [accepted]
PHST- 2018/03/31 06:00 [entrez]
PHST- 2018/03/31 06:00 [pubmed]
PHST- 2018/04/06 06:00 [medline]
AID - 10.11604/pamj.2017.28.185.11086 [doi]
AID - PAMJ-28-185 [pii]
PST - epublish
SO  - Pan Afr Med J. 2017 Oct 30;28:185. doi: 10.11604/pamj.2017.28.185.11086.
      eCollection 2017.