Puri, Ratna DuaKapoor, SeemaKishnani, Priya SDalal, AshwinGupta, NeerjaMuranjan, MamtaPhadke, Shubha RSachdeva, AnupamVerma, Ishwar CK, Pramod2020-04-232020-04-232018-02Puri Ratna Dua , Kapoor Seema , Kishnani Priya S , Dalal Ashwin , Gupta Neerja , Muranjan Mamta , Phadke Shubha R , Sachdeva Anupam , Verma Ishwar C , K Pramod. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics . Indian Pediatrics. 2018 Feb; 55(2): 143-1530974-75590019-6061http://imsear.searo.who.int/handle/123456789/199024Justification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinicalmanifestations and natural history of GD is highly heterogeneous with extreme geographic and ethnic variations. The literature on GD haspaucity of information and optimal management guidelines for Indian patients.Process: Gaucher Disease Task Force was formed under the auspices of the Society for Indian Academy of Medical Genetics. Invitedexperts from various specialties formulated guidelines for the management of patients with GD. A writing committee was formed andthe draft guidelines were circulated by email to all members for comments and inputs. The guidelines were finalized in December 2016at the annual meeting of the Indian Academy of Medical Genetics.Objectives: These guidelines are intended to serve as a standard framework for treating physicians and the health care systems foroptimal management of Gaucher disease in India and to define unique needs of this patient population.Recommendations: Manifestations of GD are protean and a high index of suspicion is essential for timely diagnosis. Patients frequentlyexperience diagnostic delays during which severe irreversible complications occur. Leucocyte acid ?-glucosidase activity ismandatory for establishing the diagnosis of Gaucher disease; molecular testing can help identify patients at risk of neuronopathicdisease. Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved byearly initiation of therapy before onset of irreversible complications. However, in setting of progressive neurological symptoms such asseizures and or/ neuroregression, ERT is not recommended, as it cannot cross the blood brain barrier. The recommendations herein arefor diagnosis, for initiation of therapy, therapeutic goals, monitoring and follow up of patients. We highlight that prevention of recurrenceof the disease through genetic counseling and prenatal diagnosis is essential in India, due to uniformly severe phenotypes encounteredin our populationEnzyme replacement therapyGenetic counsellingLysosomal storage disorderTreatmentJournal ArticleIndiaPediatric Hematology Oncology and Bone Marrow Transplantation unit,Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, IndiaDepartment of Pediatrics, Maulana Azad Medical College,New Delhi, IndiaPediatrics Medical Genetics, Duke University Medical Center, USADiagnostics Division, Centre for DNAFingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, IndiaDivision of Genetics, All India Institute of Medical Educationand Research, New Delhi, IndiaDepartment of Clinical Genetics, Seth GS Medical College and KEM Hospital,Mumbai, India;PD Hinduja National Hospital and Medical Research Centre, Mumbai, IndiaDepartment of Genetic Medicine, Sanjay GandhiPostgraduate Institute, Lucknow, IndiaPediatric Hematology Oncology and Bone Marrow Transplantation unit,Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, IndiaMetabolic Liver and Lysosomal Disease Program, Yale University School of Medicine,New Haven, USA.