Gaucher Disease: Clinical, Biological and Therapeutic Aspects

Dandana, A.; Khelifa, Souhaira Ben; Chahed, Hinda; Miled, Abdelhédi; Ferchichi, Salima

doi:10.1159/000440865

Cited by 110 publications

(117 citation statements)

References 71 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…14 The prevalence of GD in the general population has been estimated to be about 1:60 000 15 ; however, as seen in other autosomal recessive disorders, GD exhibits ethnical preference.…”

Section: Gaucher Diseasementioning

confidence: 99%

Hampered Vitamin B12 Metabolism in Gaucher Disease?

Hannibal

Siebert

Basgalupp

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

Untreated vitamin B 12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B 12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal and endocytic pathways induces functional deficiency of this micronutrient. Gaucher disease (GD) is characterized by dysfunctional lysosomal metabolism brought about by mutations in the enzyme beta-glucocerebrosidase (Online Mendelian Inheritance in Man (OMIM): 606463; Enzyme Commission (EC) 3.2.1.45, gene: GBA1). In this study, we collected and examined available literature on the associations between GD, the second most prevalent lysosomal storage disorder in humans, and hampered vitamin B 12 metabolism. Results from independent cohorts of patients show elevated circulating holotranscobalamin without changes in vitamin B 12 levels in serum. Gaucher disease patients under enzyme replacement therapy present normal levels of Hcy and MMA. Although within the normal range, a significant increase in Hcy and MMA with normal serum vitamin B 12 was documented in treated GD patients with polyneuropathy versus treated GD patients without polyneuropathy. Thus, a functional deficiency of vitamin B 12 caused by disrupted lysosomal metabolism in GD is a plausible mechanism, contributing to the neurological form of the disorder but this awaits confirmation. Observational studies suggest that an assessment of vitamin B 12 status prior to the initiation of enzyme replacement therapy may shed light on the role of vitamin B 12 in the pathogenesis and progression of GD.

show abstract

“…14 The prevalence of GD in the general population has been estimated to be about 1:60 000 15 ; however, as seen in other autosomal recessive disorders, GD exhibits ethnical preference.…”

Section: Gaucher Diseasementioning

confidence: 99%

Hampered Vitamin B12 Metabolism in Gaucher Disease?

Hannibal

Siebert

Basgalupp

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

show abstract

“…ated with splenomegaly and bone marrow involvement (4). Patients referred to clinic with symptoms associated with anemia and thrombocytopenia.…”

Section: © C I C E D I Z I O N I I N T E R N a Z I O N A L Imentioning

confidence: 99%

Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher�s Disease

Demirci

Çizmecioğlu

Aydoğdu

2017

ccmbm

View full text Add to dashboard Cite

SummaryGaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child -osteogenesis imperfecta and he had joint deformities due to skeletal fractures. We wanted to present this case to raise awareness of GD's skeletal involvement and effects of late diagnosis.

show abstract

“…В частности, у пациентов с болезнью Гоше актив-ность кислой β-глюкоцереброзидазы не превышает 5-25% от нормального уровня [2,5]. На втором месте по доказательности стоит генетическое исследование, на [4].…”

Section: а в сunclassified

“…Продолжительность жизни зависит от развития порталь-ной гипертензии, цирроза и пече-ночной недостаточности. Наиболее часто встречаются гепатоспленоме-галия и поражение костной ткани и костного мозга c развитием цитопе-нии в результате инфильтрации клетками Гоше [1][2][3][4][5]. Несмотря на то что вовлечение в патологический процесс скелета не влияет на про-должительность жизни, именно изменения со стороны костной ткани приносят детям наибольшие страдания, связанные с выраженной болью и ограничивающие двига-тельную активность ребенка.…”

unclassified

Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods

et al. 2016

View full text Add to dashboard Cite

One of the causes of hepatomegaly in children are rare (orphan) diseases associated with congential metabolic disorders. Starting from 2008, the last day of February is Rare Disease Day. As a rule, knowing that the child has a congenital metabolism disorder does not inspire pediatrician's optimism because of poor prognosis and ineffective therapy. However today, new drugs are emerging that can improve the quality of life of patients with orphan diseases. The main target of the pediatrician is timely diagnosis which allows to prescribe replacement enzyme therapy.

show abstract

Gaucher Disease: Clinical, Biological and Therapeutic Aspects

Cited by 110 publications

References 71 publications

Hampered Vitamin B12 Metabolism in Gaucher Disease?

Hampered Vitamin B12 Metabolism in Gaucher Disease?

Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher�s Disease

Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods

Contact Info

Product

Resources

About