Gaucher disease: studies of phenotype, molecular diagnosis and treatment

Rice, Erin; Mifflin, Theodore E.; Sakallah, Sameer; Lee, Robert E.; Sansieri, C; Barranger, John A.

doi:10.1111/j.1399-0004.1996.tb03268.x

Cited by 18 publications

(9 citation statements)

References 30 publications

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“…, Adenylosuccinase deficiency, Purine nucleoside phosphorylase deficiency). Some of these conditions have emerging treatments, but not an established standard of care treatment; for example, Canavan disease, [ 25 ] and Gaucher disease, type 3 [ 26 ].…”

Section: Resultsmentioning

confidence: 99%

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Leach

Shevell

Bowden

et al. 2014

Orphanet J Rare Dis

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BackgroundInborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as ‘atypical CP’. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with improvement of symptoms) or with the potential to halt disease progression and prevent/minimize further damage.MethodsWe performed a systematic literature review to identify all reports of IEMs presenting with CP-like symptoms before 5 years of age, and selected those for which evidence for effective treatment exists.ResultsWe identified 54 treatable IEMs reported to mimic CP, belonging to 13 different biochemical categories. A further 13 treatable IEMs were included, which can present with CP-like symptoms according to expert opinion, but for which no reports in the literature were identified. For 26 of these IEMs, a treatment is available that targets the primary underlying pathophysiology (e.g. neurotransmitter supplements), and for the remainder (n = 41) treatment exerts stabilizing/preventative effects (e.g. emergency regimen). The total number of treatments is 50, and evidence varies for the various treatments from Level 1b, c (n = 2); Level 2a, b, c (n = 16); Level 4 (n = 35); to Level 4–5 (n = 6); Level 5 (n = 8). Thirty-eight (57%) of the treatable IEMs mimicking CP can be identified by ready available metabolic screening tests in blood or urine, while the remaining IEMs require more specific and sometimes invasive tests.ConclusionsLimited by the rare nature of IEMs and incomplete information in the literature, we conclude that (1) A surprisingly large number of IEMs can present with CP symptoms, as ‘CP mimics’, (2) although individually rare, a large proportion of these diseases are treatable such that neurological damage can either be reversed or prevented, (3) clinician awareness of treatable CP mimics is important for appropriate screening, diagnosis, and early intervention, and (4) systematic studies are required to elucidate the collective frequency of treatable IEMs in CP.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0197-2) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Leach

Shevell

Bowden

et al. 2014

Orphanet J Rare Dis

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“…Most of the patients (89%) did not have neurological symptoms and had presented at the age of one year and beyond. These most likely had type 1 disease which is by far the most common variant of the disease and is particularly prevalent among the Ashkenazi Jews (6,7).There was only one patient aged seven years with neurological symptoms which had manifested as delayed milestones of infancy. This patient most likely had type 2, the neuropathic disease which presents in early infancy (8,9).…”

Section: Discussionmentioning

confidence: 99%

“…This therapy decreases liver and spleen size, reduces some skeletal abnormalities, and successfully reverses other manifestations of the disorder including abnormal blood counts. Bone marrow transplantation has cured a small number of patients and steroids have been reported to alleviate symptomatology during crisis (6,7). Splenectomy may be performed for thrombocytopenia (4).…”

Section: Introductionmentioning

confidence: 99%

Gaucher's Disease at a National Referral Hospital

Murila

Rajab²,

Ireri³

2008

E Af Med Jrnl

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Objectives: To determine the prevalence and to characterise Gaucher's disease in terms of socio-demographic data, clinical presentation, and management as seen at Kenyatta National Hospital. Design: A retrospective record based study. Setting: Kenyatta National Hospital, a referral and teaching hospital. Main outcome measures: Prevalence (number of cases seen a year), of Gaucher's disease, sociodemographic data, clinical presentation, mode of diagnosis and treatment modalities of Gauchers disease. Results: Nine patients were studied, four males and five females giving a prevalence of 0.9 cases seen a year and a M:F ratio of about 1:1. The most common presentation was splenomegaly in nine (100%) cases and hepatomegaly in seven (78%) patients, neurological and bone symptoms were rare, in one (11%) cases and in two (22%) cases respectively. Diagnosis was mainly on basis of presence of Gaucher cells in bone marrow and splenic aspirate as enzyme assay was unavailable. Management was mainly supportive and enzyme therapy was only available for two (22%) patients. Anaemia was the most common complication with seven (78%) patients and one death occurred due to osteomyelitis. Only four (44%) patients were followed up for a period of four years. Conclusions: Gaucher's disease is a rare condition at the Kenyatta National Hospital (KNH). The presentation of most patients is organomegaly, (hepatosplenomegaly) and best fits the type 1 or non-neuronopathic Gaucher's disease. Neurological manifestations are rare. Management of this condition at the KNH is mainly supportive and enzyme therapy still remains out of reach for most patients.

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“…In patients with one of the most common mutations (eg, N370S), the mean age of the development of recognizable symptoms is 30 years 39. However, some individuals with this genotype remain asymptomatic throughout life, thus the frequency of type 1 Gaucher disease is difficult to define.…”

Section: Clinical Features and Natural History Of Diseasementioning

confidence: 99%

Imiglucerase in the treatment of Gaucher disease: a history and perspective

Deegan

Cox

2012

DDDT

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The scientific and therapeutic development of imiglucerase (Cerezyme®) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in treatments for rare diseases by major pharmaceutical companies stems in large part from an exception among rarities: the astonishing commercial success of Cerezyme. The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ultra-orphan disorder: Gaucher disease.

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Gaucher disease: studies of phenotype, molecular diagnosis and treatment

Cited by 18 publications

References 30 publications

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Gaucher's Disease at a National Referral Hospital

Imiglucerase in the treatment of Gaucher disease: a history and perspective

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