A learning module on phenylketonuria (PKU), covering metabolic basis, clinical presentation, diagnosis, and management. Based on NORD's Rare Disease Report. 

Describe the metabolic basis of PKU and why phenylalanine control remains relevant lifelong.

Recognise the neuropsychiatric and physical features that can develop in adults who relax or stop phenylalanine-restricted treatment.

Outline the management options for PKU patients.

Concise guide to Phenylketonuria

MedShr Rare Disease Hub with NORD

Concise Guides to Rare Disorders

MedShr Concise Guides to Rare Disorders provide an expert guide to the diagnosis and management of rare disorders ranging from Acanthosis Nigrans to Duchenne Muscular Dystrophy, from the National Organization for Rare Disorders.

Complete each module with a short multiple choice test for free CPD credits

James Wadkin

In this module we will learn about the causes, signs, symptoms and treatments of  Brown Séquard Syndrome

A Concise Guide to Brown Séquard Syndrome

This module was developed from the NORD guide to Andersen-Tawil Syndrome

A Concise Guide to Andersen-Tawil Syndrome

This module was developed from the NORD guide to cicatricial alopecia

A Concise Guide to Cicatricial Alopecia

A Concise Guide to Retinal Cone Dystrophy from NORD

A Concise Guide to Cone Dystrophy

This module was developed from the NORD guide to AIDS Dysmorphic Syndrome

A Concise Guide to AIDS Dysmorphic Syndrome

This module was developed from the NORD guide to chronic lymphocytic leukaemia

A Concise Guide to Chronic Lymphocytic Leukaemia

Developed by NORD experts as a concise guide to ALS 

A Concise Guide to ALS - Amoytrophic Lateral Sclerosis

This module is based on the NIH and NORD guidance on XLH also known as Vitamin D Resistant Rickets

A Concise Guide to XLH - X-Linked Hypophosphatemia

This module was developed from the NORD guide to ITP

A Concise Guide to Immune Thrombocytpenia

This concise guide learning module explores the diagnosis and management of Paget's Disease of the bone for clinicians, based on a NORD physician guide

Concise Guide to Paget's Disease of the Bone

This concise guide, based on the NORD rare disease database, explores Churg Strauss Syndrome (Eosinophilic granulomatosis with polyangiitis, EPGA) for physicians

A Concise Guide to Churg Strauss Syndrome

This concise guide, based on the NORD rare disease database, explores Autosomal Dominant Polycystic Kidney Disease (ADPKD) for physicians

Concise Guide to Autosomal Dominant Polycystic Kidney Disease (ADPKD)

This concise guide, based on the NORD rare disease database, explores Congenital Adrenal Hyperplasia (CAH) for physicians

Concise Guide to Congenital Adrenal Hyperplasia

This concise guide, based on the NORD rare disease database, explores Ewing (Ewing's) Sarcoma for physicians

Concise Guide to Ewing Sarcoma

This concise guide, based on the NORD rare disease database, explores Behçet’s Syndrome for physicians

A Concise Guide to Behçet’s Syndrome

This concise guide, based on the NORD rare disease database, explores Kearns Sayre Syndrome for physicians

A Concise Guide to Kearns Sayre Syndrome 

This concise guide learning module explores the diagnosis and management of cystinuria for clinicians, based on a NORD physician guide

Concise Guide to Cystinuria

The NORD guide to Duchenne Muscular Dystrophy (DMD)

A Concise Guide to Duchenne Muscular Dystrophy (DMD)

This short module brings together a collection of resources related to the extremely rare condition, atypical haemolytic uraemic syndrome (aHUS).

A Concise Guide to aHUS - Atypical Haemolytic Uraemic Syndrome

In this module we will learn about characteristic features of Acanthosis Nigrans. Photo from https://dermnetnz.org/topics/acanthosis-nigricans/

A Concise Guide to Acanthosis Nigrans

A concise guide to the diagnosis and management of dermatomyositis, based on the NORD rare disease database

Concise Guide to Dermatomyositis

This learning module provides a concise guide to diagnosis and management of tuberculosis with specific reference to the International  and European Standards for Tuberculosis Care.

A Concise Guide to Tuberculosis (TB)

A concise guide to Acid Sphingomyelinase Deficiency (ASMD / Niemann-Pick Disease/ NPD-A/B), based on the NORD rare disease database

Concise Guide to Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

In this interactive module we will cover the signs and symptoms, diagnosis and management of pernicious anaemia

Concise Guide to Pernicious Anaemia

A comprehensive guide to recognising, diagnosing and managing transthyretin cardiac amyloidosis. Covers clinical red flags, non-biopsy diagnostic criteria, disease-modifying therapies, and UK referral pathways. Based on NORD Rare Disease Reports with current evidence-based practice.

Concise Guide to Transthyretin (ATTR) Cardiac Amyloidosis

A comprehensive clinical guide to hereditary angioedema (HAE), covering recognition, diagnosis, and management of this rare but potentially life-threatening condition. Adapted from NORD Rare Disease Report with current UK/EU/US therapeutic evidence.

Concise Guide to Hereditary Angioedema (HAE)

A Concise Guide to Fabry disease - a rare X-linked lysosomal storage disorder. This module covers recognition, diagnosis, and management of this multi-organ condition that affects kidneys, heart, nervous system, skin, and eyes. Adapted from NORD Rare Disease Report with current UK/EU/US therapeutic evidence.

Concise Guide to Fabry Disease

A NORD Rare Disease Report adapted for MedShr clinical CPD. This comprehensive guide covers the recognition, diagnosis, and management of Wilson disease - a rare but treatable copper metabolism disorder. Target audience: GPs, gastroenterology, hepatology, neurology, psychiatry, paediatrics, and metabolic medicine.

Concise Guide to Wilson's Disease

A comprehensive NORD Rare Disease Report adapted for MedShr clinical CPD, covering the recognition, diagnosis, and management of acute hepatic porphyrias. Target audience: GPs, emergency medicine, acute medicine, gastroenterology, neurology, and anaesthetics. Estimated learning time: 45 minutes + 5 MCQs.

Concise Guide to Acute Hepatic Porphyria (AHP)

A NORD Rare Disease Report adapted for MedShr clinical CPD targeting GPs, GP trainees, cardiology, lipid/metabolic clinics, paediatrics, and clinical genetics. Covers recognition, diagnosis, and stepwise management of familial hypercholesterolaemia with emphasis on cascade screening.

Concise Guide to Familial Hypercholesterolaemia  (FH)

A comprehensive learning module on Pulmonary Arterial Hypertension (PAH) adapted from NORD Rare Disease Reports. This module covers recognition, diagnosis, classification, and management of PAH, with emphasis on the four therapeutic pathways including the new activin-TGFβ axis (sotatercept). Targeted at cardiology, respiratory medicine, rheumatology, and primary care clinicians. Includes 5 MCQs pitched at MRCGP AKT and MRCP levels.

Concise Guide to Pulmonary Arterial Hypertension (PAH)

A clinical learning module on primary sclerosing cholangitis (PSC) — a rare, progressive cholestatic disorder of the bile ducts. Covers pathophysiology, clinical features, diagnosis, differential diagnosis, management and surveillance, and complications. 

Concise Guide to Primary Sclerosing Cholangitis (PSC)

A MedShr Learning Module adapted from the NORD Rare Disease Report on AL (light chain) amyloidosis. Covers epidemiology, pathophysiology, clinical presentation, diagnosis, management, and referral pathways. 

Concise guide to AL amyloidosis

A MedShr learning module adapted from the NORD Rare Disease Report on Obstructive Hypertrophic Cardiomyopathy (oHCM). Covering epidemiology, pathophysiology, clinical presentation, diagnosis, and management (including mavacamten). 

Concise guide to Hypertrophic Cardiomyopathy

A MedShr Learning Module adapted from the NORD Rare Disease Report on Myasthenia Gravis. This module covers the autoimmune mechanisms, clinical presentation, diagnosis, and escalating management of generalised MG.

Concise guide to Myasthenia Gravis

A guide to alpha-1 antitrypsin deficiency (A1AD), covering epidemiology, pathophysiology, clinical presentation, diagnosis, and management. 

Concise guide to Alpha-1 Antitrypsin deficiency

A learning module on Hereditary Haemorrhagic Telangiectasia (also known as HHT / Osler-Weber-Rendu syndrome), covering genetics, clinical presentation, diagnosis, and management. 

Concise guide to Hereditary Haemorrhagic Telangiectasia

A MedShr Learning Module based on the NORD Rare Disease Report on Marfan Syndrome. Covering pathophysiology, clinical presentation, diagnosis, and management.

Concise guide to Marfan syndrome

A learning module on mastocytosis with a focus on systemic mastocytosis — covering classification, pathophysiology, clinical presentation, diagnosis, and management. Adapted from a NORD Rare Disease Report for educational use. 

Concise guide to mastocytosis

A learning module on Duchenne muscular dystrophy (DMD), covering pathophysiology, clinical presentation, diagnosis, and the current treatment landscape — including corticosteroids, exon-skipping therapies, and gene therapy. Adapted from the NORD Rare Disease Report for educational use. 

Concise guide to Duchenne Muscular Dystrophy (DMD)

A learning module on NMOSD covering epidemiology, pathophysiology, clinical presentation, diagnosis, and management. Adapted from the NORD Rare Disease Report for educational use. 

Concise guide to Neuromyelitis Optica Spectrum Disorder

A learning module on X-linked adrenoleukodystrophy (ALD), covering pathophysiology, clinical presentation, diagnosis, and management. Adapted from the NORD Rare Disease Report for educational use. 