METABOLIC DISORDERS

The Pediatrician’s Role in Identifying and Understanding Fabry Disease

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1:03
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Robert J. Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine - Discussing the unique challenges in identifying Fabry disease and what key signs and symptoms of which pediatricians should be aware - The importance of family history and genotyping - Understanding the differences of Fabry disease in males and females - Enzyme replacement therapy - Organ specific treatment and symptom management - Treatment for Fabry disease is a complex subject

The Pediatrician’s Role in Understanding and Diagnosing Gaucher Disease

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0:57
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Dr Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment - Introduction on Gaucher disease, the first subtype of lysosomal storage diseases that had an effective enzyme replacement therapy. Discuss current diagnostic methods. Give pediatricians a basic understanding of the main diagnostic procedures for Gaucher disease to prevent costly delays in diagnosis that prevent patients from prompt treatment. Consequences of delayed diagnosis and treatment.

When common complaints are the signs of Lysosomal Storage Diseases

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At the end of the Session participants will: (1) Understand the signs and symptoms of lysosomal storage diseases. (2) Have the ability to identify the key diagnostic features and differentiate them from more common diseases. (3) Evaluate the ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.

Faculty: 
UMA RAMASWAMI
Moderator: 
ATHIMALAIPET RAMANAN
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8th Excellence in Pediatrics, London 8-10 December 2016
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Practical advice on spotting the signs of Rare Diseases and Chronic Conditions in the everyday practice

When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs

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0:55
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Dr. Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program, Massachusetts General Hospital & Instructor of Medicine, Harvard Medical School - Aimed at frontline pediatric healthcare professionals, attendees will acquire a better understanding of the signs and symptoms of lysosomal storage diseases (LSDs) including the ability to identify the key diagnostic features of LSDs and differentiate them from more common diseases. Pediatricians will learn the appropriate ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.

Lysosomal Storage Diseases Clinical Recognition, Diagnosis and Management

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Lysosomal Storage Diseases
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This is an accredited eLearning course. User engagement 1 Hour. The course covers the assessment of lysosomal storage diseases, their prevalence and lifetime consequences. Learn how lysosomal storage diseases matter, and what their underlying causes are.

[OP2.6-16] Pre-Diagnostic Clinical Presentation in Children with Mucopolysaccharidosis

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Jose Antonio Alonso Cadenas, Beatriz Corredor Andrés, Mar Velilla Aparicio, Teresa de Rojas de Pablo, Laura López Marín, Luis González Gutierrez-Solana
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Introduction: Mucopolysaccharidosis (MPS) are a group of rare diseases that lead to chronic and multisyistemic disorders. They are caused by the absence or malfunction of lysosomal enzymes. MPS have a low incidence, with 1/22500. They are 6 main types of MPS, being I, II, III and IV the most common.

Purpose: The aim of this work is to describe the main symptoms and surgical procedures prior to the diagnosis of mucopolysaccharidosis.

Materials and Methods: Patients 0-18 years old with MPS were recruited in a Spanish reference pediatric neurology institution from January 2003 to December 2015. Symptoms, surgical procedures and psychomotor development prior to diagnosis were collected. Time to diagnosis was assessed from date of onset of first symptoms to date of diagnosis (defined by enzime assays).

Results: 41 patients were included. Median age at diagnosis was 2.16 years (range 0-9.1). Main symptoms were: visceromegalies and/or umbilical/inguinal hernias 37%, otorhinolaryngological (ORL) disorders 34%, musculosketal disorders 27%, dysmorphic phenotype 27%, neurological disorders 10% and ocular disorders 2%. The most frequent initial symptoms according to MPS type were: musculoskeletal disorders (50%) in MPS1; ORL disorders (67%) in MPS2 and visceromegalies/abdominal hernias (71%) in MPS3. Psychomotor impairment was present at diagnosis in 35% patients. 41.5% patients were subjected to surgery prior to diagnosis. Most frequent procedures included: reduction of abdominal hernias (24%), ORL procedures (22%) and ventriculoperitoneal shunting 5%. 93% patients had developed symptoms during the first year of life., Nevertheless, only 59% were diagnosed with MPS before the age of 2.

Conclusion: Main initial symptoms in patients with mucopolysaccharidosis include visceromegalies, abdominal hernias, ORL, ocular and, musculosketal disorders, dysmorphic phenotype and psychomotor impairment. A large proportion of patients have already been subjected to surgery at the moment of diagnosis. Most common procedure indications are ORL disorders, abdominal hernias and hydrocephalus. We consider it crucial for paediatricians to be familiar with the main symptoms of MPS and the most common surgeries of these patients. This will improve early diagnosis.

University ChildrenЂs Hospital NiЦo Jesus, Spain; jalonsocadenas@gmail.com

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[OP2.2-16] Classic Galactosemia – An Unusual Form of Presentation

Author: 
Catarina Melo Borges 1, Tânia Filipa dos Santos Mendo 1, Sónia Cristina Pereira Fernandes 1, Cláudia Dias da Costa 2, Laura Ferreira Teixeira Vilarinho 3, Isabel Antolin Rivera 4, Ana Maria Simões Mendes Gaspar 2, Maria de Fátima Piedade Álvares Furtado 1
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Introduction: Classic galactosemia is a genetic condition, occurring in approximately 1 in 60,000 livebirths, inherited in an autosomal recessive pattern, associated with mutations in the GALT gene mutations, which predisposes to a compromised ability to metabolize galactose. It usually presents in the first days of life with jaundice, vomiting, hepatomegaly, failure to thrive, poor feeding, diarrhoea and sepsis. Although in some countries, its screening is routinely performed by newborn screening (NBS) program that does not happen in Portugal.

Clinical Case: We describe the case of a 2-month-year-old male child, without inbreeding and no relevant prenatal background, except for a minor unilateral hydronephrosis. He was admitted in our emergency department with paroxysmal nonepileptic events, mostly feed related, frequent regurgitation and failure to thrive. On physical examination, plagiocephaly and torticollis were noticed. Routine medical exams performed were normal, except for proteinuria. After medical discharge, he was referred to our out-patient clinic. His clinical evolution was characterized with maintenance by failure to thrive and developmental delay and Metabolic Disease Unit evaluation was requested. Inborn errors of metabolism (IEM) investigation revealed CDT > 5,3% (VR<2,6%), and renal tubular dysfunction. Urinary organic acids, sugars and polyols chromatographs where done. Ophthalmic evaluation was unremarkable. Brain MRI suggested IEM affecting mainly the white matter. Meanwhile CDG gene panel was inconclusive. A secondary CDG alteration where considered. Urinary profiles showed: polyol accumulation with Galactitol, 201mmol/mol Creatine (VR 6-71) and total Galactose on Guthries NBS was high: 36mg/dL e 52.3mg/dL. Compound heterozygosity mutation for Classic Galactosemia was detected. Galactose-restricted diet was initiated with great improvement in both his growth and development. CDT and urinary profile normalised and eGALP1P is now in good metabolic control reference pattern. Brain MRI was repeated by the age of two and significant regression of the signs seen before was noticed.

Conclusion: This case reveals an unusual form of presentation for a treatable disease. In our country Galactosemia is not on NBS panel so it was a diagnostic challenge that we have to consider when we have CDG profile alterations.

1Lower Alentejo Local Health Unit, Hospital José Joaquim Fernandes, Beja; 2Metabolic Diseases Unit, Pediatric’s Department of Santa Maria’s Medical Academic Centre, Hospital CHLN EPE, Lisbon; 3Metabolism and Genetics, Newborn Screening Unit, Human Genetic Department, Instituto Nacional de SaЬde Dr. Ricardo Jorge, OPorto; 4Metabolism and Genetics Laboratory, Pharmacy Faculty, University of Lisbon; borgescatarinamelo@gmail.com

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Watch the EIP RARE DISEASE LECTURE on the Pediatrician’s Role in Understanding and Diagnosing Gaucher Disease at Yale University School of Medicine

Invitation to RARE DISEASE LECTURE

LECTURE: The Pediatrician’s Role in Understanding and Diagnosing Gaucher Disease

DATE: February 10, 2016, 3:00 to 4:30 p.m. at Yale University School of Medicine

SPEAKER: Dr Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment.

EVENT HOSTS: The Excellence in Pediatric (EIP) Institute: a not-for-profit with a global reach that represents and unites 45,000 pediatric healthcare professionals around the world – www.ineip.org

LOCATION: Yale University School of Medicine, Anlyan Center, 300 Cedar St. TAC-224, New Haven, CT 06519 - Attendance is free, but seating is limited

CONTACT: To reserve your seat, please contact Russell Hale at: rhale@ineip.org


Further information on the Speaker, Excellence in Pediatrics Lecture Series and the Venue Hosts

Pramod K Mistry, MD, PhD:

Dr. Mistry is the Director of National Gaucher Disease Treatment Center and Professor of Pediatrics and Medicine at Yale School of Medicine, New Haven, Connecticut. His clinical, research and educational activities center around inherited metabolic liver diseases and in particular on Gaucher disease. Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher disease. He has received several awards for his work on Gaucher disease, including the Alan Gordon Memorial Award, Physician of the year award from Genetic Disease Foundation of New York and Fellowship of the Royal College of Physicians of London. 

The Excellence in Pediatric (EiP) Institute: a nonprofit association with a global reach, that represents and unites 45,000 pediatric healthcare professionals around the world (www.ineip.org). EiP’s approach is to focus on a number of initiatives and campaigns that bring together the top national and international experts in a particular area of pediatrics to produce educational materials (free-to-view e-learnings, conference sessions and support portals) for pediatricians and parents.

The US Rare Disease Initiative is the latest part of the campaign with the concept being that by working with the leading US experts in Lysosomal Storage Diseases – EiP can provide the latest impartial and practical advice to pediatricians across the US to help to better detect and refer patients they suspect of having a rare disease.

The EIP Rare Disease Lecture Series:

The project takes the form of a lecture series across 5 US cities during the Fall and Winter of 2015-16, with a practical lecture delivered by KOLs in front of an audience of their colleagues, peers, and patient group representatives. The lectures will be filmed and made into free-to view e-leanings that can be viewed by frontline pediatricians online to increase the early detection rates of rare diseases across the US.

 

 

Yale University School of Medicine: Founded in 1810, the Yale School of Medicine is a world-renowned center for biomedical research, education and advanced health care. 

 

Directions to The Anlyan Center (TAC) Building

Taking I-95 North: Leave I-95 North at Exit 47 (Downtown New Haven/Rte 34). This is a LEFT side exit. This puts you onto an exit expressway. Merge onto CT-34 W via EXIT 1 toward Downtown New Haven. Then follow the directions below.
Taking I-95 South: Leave I-95 South at Exit 47 (Downtown New Haven/Rte 34), just after the bridge This is the center one of three exits. Merge onto CT-34 W via EXIT 1 toward Downtown New Haven. Then follow the directions below.
From I 91 South: Leave I-91 South at Exit 1 (Downtown New Haven/Rte 34). This exit puts you onto an exit expressway. Take Exit 1 (the first exit) off the expressway which merges onto Frontage Road and follow the directions below. 

If you want to park on the street, take EXIT 2 toward College St/ N. Frontage Rd. Turn Left onto College Street and continue for two blocks. Turn slight right onto Congress Ave. The Anlyan Center (TAC building) is at the next corner. If you will be parking in the garage suggested below, follow the directions listed below. 

If you prefer to park in a garage, follow the short expressway to its end in New Haven. You will be next to a huge parking garage (Air Rights Garage) at the intersection of York and North Frontage/Rte 34. Keep to your left on this final off ramp and then make a left into the garage and park. Take the elevator to street level. Walk on York St. towards the Medical center

(the corner with the Subway store) and cross the road (S. Frontage) and continue on York St. to the next intersection. Cross over and then make a L there on Cedar St. Walk about 1 long block to the intersection of Cedar St. and Congress Avenue. Cross there and enter the TAC Building (300 Cedar St) which is the huge building diagonally to your right at 11 O’Clock.

The Pediatrician’s Role in Identifying and Understanding Gaucher Disease

Learning Objectives

  • A better understanding of the signs and symptoms of Gaucher disease.
  • Ability to identify the key diagnostic features of Gaucher disease.
  • Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.

Lecture Summary:

  • Brief introduction on Gaucher disease, the first subtype of lysosomal storage diseases that had an effective enzyme replacement therapy.
  • Discuss current diagnostic methods including the unique challenges in identifying Gaucher disease and the shortcomings in current diagnostic options – Objective: Give pediatricians a basic understanding of the main diagnostic procedures for Gaucher disease to prevent costly delays in diagnosis that prevent patients from prompt treatment.
  • The importance of genotyping – Objective: Pediatricians will learn the importance of determining the specific genetic mutation affecting the Gaucher disease gene and the implications for other family members.
  • Consequences of delayed diagnosis and treatment – Objective: Pediatricians will learn that better clinical outcomes are associated with earlier diagnosis and how the varied manifestations of this disorder impact a patient’s quality of life.
  • What to look for – Objective: Pediatricians will learn how to recognize the key diagnostic features of Gaucher disease as well as uncommon presentations of the disorder that are not obviously connected to the underlying enzyme defect.
  • A heterogeneous disorder – Objective: Pediatricians will learn that there is a broad potential disease expression in Gaucher disease including diverse manifestations, a broad range in age of onset, and a wide clinical spectrum of disease severity.
  • Much to learn – Objective: Much about Gaucher disease is still not fully understood. Pediatricians will learn what aspects of the disorder still have unresolved questions including a full understanding of disease pathogenesis, the best management strategies for neuropathic disease, the underlying pathogenesis of bone disease, and the specific factors that cause the highly variable nature of the disorder.
  • Next steps – Objective: Pediatricians will learn where to refer patients to a specialist for treatment decisions and what organizations exist that can provide support and education for Gaucher patients. 
  • Summary/closing remarks

 

VIEW PREVIOUS LECTURE ON RARE DISEASES 

When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs - October 19th, 2015, Boston MA - Dr. Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical 


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Early diagnosis can make a difference 

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DATE: February 10, 2016, 3:00 to 4:30 p.m. at Yale University School of Medicine

SPEAKER: Dr Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment.

Watch the lecture 

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Campaigns - Mission

Mission of our educational campaign

Pediatricians and family doctors are likely to be the first healthcare professionals to observe symptoms of Metabolic Disorders. We are targeting to educate these front-line clinicians to better suspect, diagnose, and refer patients particularly when Rare Diseases that are treatable occur. Delays in diagnosis are driven in part by a lack of knowledge about when to suspect and pursue a Rare Disease diagnosis and also by the historical and now dated perception that effective treatments do not exist, reducing the perceived urgency to diagnose a Rare Disease as expeditiously as possible. We are aiming to increase the awareness among front-line child healthcare professionals.