Inherited metabolic disease
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Inherited metabolic disease
Resources and useful websites for all those interested in inherited metabolic disease
Curated by Duncan Cole
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Welcome to the Inherited Metabolic Disease Scoop.it!

Welcome to the Inherited Metabolic Disease Scoop.it! | Inherited metabolic disease | Scoop.it

I have curated a variety of online sources of information on all types of inherited metabolic disease (IMD).  I run a specialist service for adults with IMDs in Cardiff, and have a growing interest in online learning.  You can find information about the Department of Medical Biochemistry in Cardiff University from the link here, which includes a link to my personal profile. 

 

Each of the posts have been reviewed, and so should contain good, useful, and interesting information.  If any of them don't please let me know!

 

The content is searchable - click on the "Filter" button above and enter your search terms.

 

If you want updates, click on the blue "Follow" button at the top right.  You can also follow me on Twitter @DuncanMedBio where I will also be sharing posts.

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European Personalised Medicine Association

European Personalised Medicine Association | Inherited metabolic disease | Scoop.it
Duncan Cole's insight:

This is an association with a specific role in promoting personalised medicine, ie that stream of genetics, diagnostics and therapeutics that aims to stratify patients and target treatments more accurately according to their genetic make-up using new technologies.  It gives some useful background and links.  This is an area that is likely to impact on IMDs more and more in the future, so worth becoming familiar with it.

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Human Genomics | Full text | Lysosomal storage disorders: Molecular basis and laboratory testing

Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes" 

Duncan Cole's insight:

This article focusses more on the pathophysiology and diagnostic testing strategies for lysosomal storage disorders.  They include the use of first line tests such as urine GAGs and oligosaccarides, as well as discussion on enzyme and molecular testing.

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Treatable Intellectual Disability

Treatable Intellectual Disability | Inherited metabolic disease | Scoop.it

Treatable Intellectual Disability: an interactive tool for the Clinician

Duncan Cole's insight:

Very useful tool for clinicians, biochemists, geneticists and others involved in the investigation of children with these disorders.  The website/app can be searched according to disease, clinical presentation, or test, and links to other useful information, including reviews, clinical trials, research abstracts and patient support information.  It is based on a systematic review by a Canadian team which has just been updated.  Well worth a look, but remember to discuss testing with your local lab as there are variations in investigation protocols and availability of assays.

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McArdle disease - second wind

Andrew Wakelin and Andy Williams discuss the need for people with McArdle Disease to carefully manage getting into "second wind" at the start of exercise. A ...
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Duncan Cole's curator insight, October 1, 2013 6:35 AM

McArdle disease is caused by a deficiency in muscle glycogen phosphorylase, and so the metabolic problem lies in releasing glucose from glycogen stored in muscle.  This means exercising muscles run into energy deficit when requiring energy from glycogen.  Here the phenomenon of "second wind" is described, a characteristic feature of this condition, and how somebody with McArdle disease manages getting to this point most effectively when starting to exercise.

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FindZebra - The search engine for difficult medical cases

The term "zebra" is a medical slang for a surprising diagnosis. Physicians are taught since medical school to concentrate on the more common diseases: "when you hear a gallop, you should think about a horse, not a zebra". FindZebra is designed to help in those cases when the equine turns out to be a zebra.

Duncan Cole's insight:

This is an interesting search engine - designed specifically for use in diagnosing rare diseases.  It uses database sources such as OMIM and Orphanet, and according to research papers published by the team running this project it outperforms Google even when Google is used in its most optimal mode for this type of search.  It works with full clinical information, and can cope with long search terms.  It performed well with typical presentations for various IMDs when I tried it, and it may prove helpful for clinicians once more common diagnoses are ruled out.  However, the authors emphasize it is still a research project, and don't recommended it for use by those who are not medical professionals.

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Lysosomal Storage - a brief intro

A brief introduction into the focus of our medical research group; describing the nature of lysosomal storage diseases.

Duncan Cole's insight:

This is a good, straightforward introduction to lysosomes and the lysosomal storage disorders from Joe Clarke's research group in Canada.  It covers how the disorders arise, classification, the range of problems they can cause.  There is more on specific disorders in their eClinics, links to which you can find below.

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Simple blood test may diagnose deadly Niemann-Pick type C disease

For patients with Niemann-Pick type C (NPC) disease, the test will make it possible to begin treatment earlier, when it is more likely to improve quality (and quantity) of life.

Duncan Cole's insight:

This video, from Dan Ory, briefly outlines the work he is doing on the diagnostics of Niemann-Pick C.  This remains difficult, relying on a cell-culture based assay looking for unesterified cholestrol storage by staining with fillipin, and molecular genetic testing of the very large (25 exon) NPC1 gene, and/or the smaller NPC2 gene.  Dr Ory's work on oxysterol profiles may well change this, and the field is now waiting for a test that can be implemented in clinical metabolic laboratories.

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NIH clinical trial begins for treatment of Niemann-Pick C - National Institutes of Health (press release)

NIH clinical trial begins for treatment of Niemann-Pick C - National Institutes of Health (press release) | Inherited metabolic disease | Scoop.it

NIH clinical trial begins for treatment of rare, fatal neurological disorder Niemann-Pick type C: National Institutes of Health press release.  This contains details of a trial of cyclodextrin.

Duncan Cole's insight:

This is an important next step in the development of cyclodextrin as a potential treatment for Niemann-Pick type C.  Another treatment exists in the form of miglustat, a substrate reduction therapy, which is at present is most effective if it is started early in the course of the disease, before the neurological manifestations have progressed significantly.  Miglustat is not as effective as we would like, and can have problematic side effects.  It is also very expensive. It will be interesting to see if cyclodextrin turns out to a viable new therapeutic option.

 

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Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood–brain barrier

To realize the potential of large molecular weight substances to treat neurological disorders, novel approaches are required to surmount the blood–brain barrier (BBB). We investigated whether fusion of a receptor-binding peptide from apolipoprotein E (apoE) with a potentially therapeutic protein can bind to LDL receptors on the BBB and be transcytosed into the CNS...

Duncan Cole's insight:

This is an important paper, demonstrating a proof of principle for one of the most difficult problems in enzyme replacement therapies (ERTs) for lysosomal storage disorders - how to get the ERT across the blood brain barrier.  The key is now to see if it also works in humans.

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What is a Urea Cycle Disorder?

What is a Urea Cycle Disorder? | Inherited metabolic disease | Scoop.it

Website of the National Urea Cycle Disorders (UCDs) Foundation, a US-based organisation.  It contains many excellent resources on UCDs and has links to the UK charity CLIMB (see the link to their website in this Scoop.it topic for more info).  The leaflets at the bottom of the link page are very good introductions, and other webpages contain excellent overviews of the individual disorders.

Duncan Cole's insight:

This is the place to look if you want more detailed information on UCDs.  If you want more, then it is to the texbooks and journals you must go, or eMedicine and GeneReviews online.

 

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Birmingham Children's Hospital - Urea Cycle Disorders

A parent/patient information film on UCD

Duncan Cole's insight:

This is a very good short film (although a bit long for YouTube) on urea cycle disorders (UCDs) and the impact it has on children and their families.  The explanations of the disorders and their treatment are excellent.

 

The major problem with these disorders is diagnosing them in the first place -  clinicians need to think about metabolic disorders as a possibility, and then check a plasma ammonia (among other investigations).  This is even more of a problem with late-onset UCDs which can present in adolescence and adulthood, where emergency medicine clinicians are even less likely to think about them as possibilities.  Once diagnosed, however, they are treatable as the film emphasises.

 

Well worth a look.

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National Information Centre for Metabolic Diseases

National Information Centre for Metabolic Diseases | Inherited metabolic disease | Scoop.it

A Resource for those affected by a Metabolic Disease

Duncan Cole's insight:

A great place to start when you're looking for information on inherited metabolic disease.  Information is aimed at patients, families and professionals.

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PKU blood sampling

A training video for patients.
Duncan Cole's insight:
This is a video produced by my colleagues in Cardiff, demonstrating how to take a blood spot sample correct for monitoring of phenylalanine levels in PKU.

In addition to the instructions given, the timing of the sample is also important, and should be recorded on the card (it should be done first thing in the morning).  Any finger can be used, it doesn't have to be the index finger presented. 
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Students4RareDiseases - Working together for rare diseases

Students4RareDiseases - Working together for rare diseases | Inherited metabolic disease | Scoop.it
Duncan Cole's insight:

This is an association of medical student rare disease societies - worth a look to see what they are doing and for advice on how to run an event.  If you are a student and want to set up a similar society in your medical school, it is worth contacting them. I'm sure they would share resources and experience if asked.

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Lysosomal Storage Disease

Lysosomal Storage Disease. Lysosomes are subcellular organelles responsible for the physiologic turnover of cell constituents.
Duncan Cole's insight:

Very good overview of lysosomal storage disease, which includes discussion of the pathophysiology as well as a classification.  If you are looking for more information on a specific disease it also provides links to other other articles. 

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UNC student lives with rare illness

Despite living with a rare genetic illness that keeps his muscles from storing glycogen, UNC student Andrew Ashley maintains his passion for soccer.
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Duncan Cole's curator insight, October 1, 2013 6:37 AM

An insight into living with McArdle disease, and the problems encountered when exercising.

 

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CheckOrphan

CheckOrphan | Inherited metabolic disease | Scoop.it
Your Source for News & Information about Rare Diseases & Orphan Products
Duncan Cole's insight:

This is an interesting blog, which links to the main CheckOrphan website that has info on a huge number of rare diseases (including inherited metabolic diseases) and their treatments.  Worth a look.

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Shining a light on orphan medicines - PMLiVE

Shining a light on orphan medicines - PMLiVE | Inherited metabolic disease | Scoop.it

Orphan diseases represent one of the most exciting and emotive areas in modern medicine and need a communications strategy that covers a spectrum of issues.

Duncan Cole's insight:

This is a helpful and interesting article on the process of getting an orphan drug to the market, and the issues that pharmaceutical companies face when doing so.  These include having to raise awareness of the disease itself and its importance - not an easy task as they are so rare - gathering the often limited data already in the literature, and engaging with stakeholders.  One of the major issues is the high cost of these medicines, a significant barrier to their use in many countries which is likely to become an increasingly important issue with health budgets being squeezed as a result of the current economic downturn.

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Red flags on Anderson Fabry disease - Irish Medical Times

Red flags on Anderson Fabry disease - Irish Medical Times | Inherited metabolic disease | Scoop.it
Irish Medical Times
Red flags on Anderson Fabry disease
Irish Medical Times
AFD is one of more than 40 lysosomal storage disorders, but is the second most common of these conditions, after Gaucher's disease.
Duncan Cole's insight:

This is a good concise summary of Fabry disease, aimed at helping readers to identify those who may have it.  As it is a multisystem disease it enters differential diagnosis of many clinical problems, but in my experience patients almost always have more than one symptom, sign, or other clinical finding attributable to Fabry disease.  It is just a question of knowing what to ask about and look for, but this is easier said than done!

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Niemann-Pick Disease Type C

Dr. Marc Patterson a pediatric neurologist at Mayo Clinic discusses Niemann-Pick disease type C.
Duncan Cole's insight:

This is a good short introduction to Niemann-Pick type C, from a medical perspective.

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Orphanet Journal of Rare Diseases | Niemann-Pick disease type C

Orphanet Journal of Rare Diseases | Niemann-Pick disease type C | Inherited metabolic disease | Scoop.it
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Duncan Cole's insight:

An excellent review of this complex disorder, covering clinical aspects as well as pathophysiology.  A good place to start for those who would like more medical and scientific detail on Niemann-Pick C.

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Rare Disease UK - the National Alliance for People with Rare Diseases and All Who Support Them

Rare Disease UK - the National Alliance for People with Rare Diseases and All Who Support Them | Inherited metabolic disease | Scoop.it
Duncan Cole's insight:

Excellent website from RDUK, an organisation with a remit for all rare diseases (IMDs included).  There are some important documents here, which can be downloaded, detailing the experiences of people with rare diseases, and a proposal paper for a UK-wide rare disease strategy.

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Urea Cycle Disorders

Film about urea cylce disorders, introduced by Dr. Vos, Assistant professor of pediatrics (gastroenterology) at Emory University Scool of Medicine and a physician at Children´s Healthcare in Atlanta.

Duncan Cole's insight:

A medical description of urea cycle disorders (UCDs) - a good introduction and generally clear.  The film covers presentation and treatment. 

 

The problem is the non-specific way patients with UCDs may present, so a key message here is if a patient (child or adult) presents with an encephalopathy of unknown cause, or is unconscious for no known reason then CHECK THE PLASMA AMMONIA and discuss with the lab or a metabolic specialist.

 

Screening is mentioned in the video - Dr Vos' comments apply to the USA.  In the UK screening is not routine for UCDs.

 

Cytonet is a biotech company working on liver cell therapies for UCDs. I have no connection with them - this film was a selected as a useful resource, not to promote them!

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Urea Cycle

Duncan Cole's insight:

Introduction to the biochemistry of the urea cycle - nice and short, and reasonably clear.  There are lots of other sources of information if you want more detail.

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Eurordis.org

Eurordis.org | Inherited metabolic disease | Scoop.it
EURORDIS - Rare Diseases Europe, is a non-governmental patient-driven alliance of rare disease patient organisations representing more than 400 rare diseases patient organisations in over 40 countries.
Duncan Cole's insight:

European website with excellent links to further information, including useful webinars and slides on inherited metabolic diseases.  There are also helpful sections on rare disease policy and orphan drugs for those that want a wider perspective, and interestingly it also has a series of eLearning modules on clinical trials.

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