yemenjmedYemen Journal of MedicinecoVolume 3 Issue 3MultidisciplinaryEnglishSeptember- December 2024NNY20241215ArticleGaucher disease and pulmonary hypertension in adult libyan female: A case-based literature reviewEnglishY242246NadyaOmran1EnglishNAmnna Rayani2EnglishYElmukhtar Habas2EnglishY10.18231/j.yjom.2024.025Gaucher disease (GD) is a rare autosomal recessive disorder that results from a deficiency in β-glucosidase (GBA) activity due to a GBA gene mutation. GBA hydrolyzes glucocerebrosides into glucose. Deficiency of this enzyme causes accumulation of glucocerebrosides in cells and tissues. Gaucher cell infiltration into the interstitial tissue can be asymptomatic or can cause mild signs and symptoms, such as wheezing and cough. Progressive disease involves Gaucher cells filling the alveolar spaces, causing dyspnea, frequent infections, pneumonia, and exercise intolerance. We report severe pulmonary hypertension in a 41-year Libyan female patient with type 1 GD who was diagnosed at 17 years of age, responding to enzyme replacement therapy.EnglishGaucher disease, Pulmonary HTN, Immunoglobulin deficiencyhttps://www.yemenjmed.com/admin/abstract?id=125References16191. Behl T, Kaur G, Fratila O, Buhas C, Judea-Pusta CT, Negrut N. Cross-talk among GBA mutations, glucocerebrosidase, and -synuclein in GBA-associated Parkinsonand;rsquo;s disease and their targeted therapeutic approaches: A comprehensive review.and;nbsp;and;nbsp;and;nbsp;and;nbsp;and;nbsp;and;nbsp;and;nbsp;and;nbsp; Transl Neurodegener. 2021;10(1):1and;ndash;4.2. Nalysnyk L, Rotella P, Simeone JC, Hamed A, Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65and;ndash;73.3. Sidransky E, Tsuji S, Stubblefield BK, Currie J, Fitzgibbon EJ, Ginns EI, et al. 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