Accessing care in the UK and Republic of Ireland

Accessing care in the UK and Republic of Ireland A guide for people new to the UK living with rare Inherited Metabolic Disorders

contact@metabolicsupportuk.org | 0845 241 2173 | Charity number: 1089588

Hello from Metabolic Support UK. We're here to help you navigate the healthcare system to ensure you receive care for your Inherited Metabolic Disorder (IMD).

Who are Metabolic Support UK? Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders supporting thousands of patients worldwide.

What is an Inherited Metabolic Disorder?

Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency.

When these chemical processes don't work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs. Inherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can't be broken down), it's too low or it's missing.

How do MSUK help people affected by IMDs? We provide individual support, build patient communities, and continually advocate for and empower those living with IMDs. Need support? Get in touch on 0845 241 2173 or via email at contact@metabolicsupportuk.org

How we can help

Individual, tailored, and confidential support, advice and guidance

Shared knowledge and experiences.

Real-stories by real people.

Peer support Education support opportunities - Talk to -Not just for kids, for someone who really all ages! gets it.

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Your rights to healthcare Primary: Refugees, asylum seekers and refused asylum seekers can register for and receive primary care free of charge. Primary care is often the first place you go to when you seek medical advice.

Secondary: This is planned care which a primary care provider has referred you for. All refugees and asylum seekers with an active application or appeal can access the full range of secondary care services free of charge in any nation of the UK. Tertiary Tertiary care means specialist services such as diagnostic and treatment services for those who have rare disorders or other complex conditions. Access to this care is judged on a case-bycase basis to determine both the level of emergency and the amount that the patient must pay Community Health Services Community health services are a huge range of varied services.

They may be provided at your home or at community clinics, schools, or other centres. Health inclusion teams are specialist community teams that provide health care services for vulnerable groups including people experiencing homelessness, refugees, asylum seekers and others.

Directory: Paediatric Metabolic Centres Birmingham Birmingham Children’s Hospital NHS Foundation Trust Bristol Bristol Royal Hospital for Children London (Evelina) Evelina London Children’s Hospital London (GOSH) Great Ormond Street Hospital Sheffield Sheffield Children’s Hospital Manchester (Willink) Royal Manchester Children’s Hospital Cardiff University Hospital of Wales Glasgow Royal Hospital for Children Belfast Belfast City Hospital Dublin Children’s University Hospital

Paediatric definition: Branch of medicine dealing with disorders in childhood.

Directory: Adult Metabolic Centres Birmingham Queen Elizabeth Hospital Cambridge Addenbrookes Hospital, London (St Thomas) St Thomas’ Hospital London (UCLH) University College Hospital London Salford Salford Royal NHS Foundation Trust Cardiff University Hospital of Wales Glasgow Glasgow Royal Infirmary Belfast Belfast City Hospital Dublin Mater Misericordiae University Hospital

Directory: Disorder Specific Organisations Alkaptonuria AKU Society info@akusociety.org Aromatic Acid Decarboxylase Deficiency AADC Research Trust UK enquiries@aadcresearch.org Barth Syndrome Barth Syndrome UK info@barthsyndrome.org.uk Batten Disease Batten Disease Family Association support@bdfa-uk.org.uk Cystinosis Cystinosis Foundation UK advice@cystinosis.org.uk Familial Chylomicronaemia Syndrome Action FCS info@actionfcs.org Galactosaemia Galactosaemia Support Group contact@galactosaemia.org Gaucher Disease Gaucher Association ga@gaucher.org.uk

Glucose transporter deficiency type 1 Glut 1 DS - UK hello@glut1deficiency.org.uk Glycogen Storage Disease Association for Glycogen Storage Diseases (AGSD) info@agsd.org.uk Hypophosphatasia (HPP) Soft Bones UK info@softbonesuk.co.uk Krabbe Disease Krabbe UK contactus@krabbeuk.org Leber Hereditary Optic Neuropathy LHON Society info@LHONsociety.org Leukodystrophy Alex-The Leukodystrophy Charity (Alex TLC) info@alextlc.org Metachromatic Leukodystrophy ArchAngel MLD Trust contact@ArchAngel.org.uk

Directory: Disorder Specific Organisations Metachromatic Leukodystrophy MLD Support Association UK admin@mldsupportuk.org.uk Mitochondrial Disorders The Lily Foundation liz@thelilyfoundation.org.uk Mucopolysaccharidosis/Fabry/ Related Lysosomal Diseases/GM1 MPS Society mps@mpssociety.org.uk Niemann-Pick Diseases NPUK - Niemann-Pick UK info@npuk.org Osteogenesis Imperfecta Brittle Bone Society admin@brittlebone.org Phenylketonuria NSPKU info@nspku.org Pompe Disease/GSD II/Acid Maltase deficiency Pompe Support Network hello@pompe.uk Porphyria British Porphyria Association helpline@porphyria.org.uk

Pyruvate Dehydrogenase Deficiency The Freya Foundation kellygilbert2008@yahoo.co.uk Tay Sachs Disease/Sandhoff Disease CATS Foundation info@cats-foundation.org X-Linked Hypophosphataemia (XLH) XLH UK contact@xlhuk.org Can't see your condition?

Check our list of supported IMDs on the next 8 pages and get in touch via: Email: contact@metabolicsupportuk.org or Phone: 0845 241 2173

A-z of Inherited Metabolic Disorders 2-Aminoadipic 2-Oxoadipic Aciduria 2-Methylbutyric Aciduria 3-Alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 3-Hydroxyisobutyric Aciduria 6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency A Acatalasaemia Acrodermatatis Enteropathica Acute Hepatic Porphyria Acute Intermittent Porphyria Adenine Phosphoribosyltransferase Deficiency Adenosine Deaminase Deficiency Adenylosuccinate Lyase Deficiency Adrenoleukodystrophy Adult Polyglucosan Body Disease AICAR Transformylase Deficiency/IMP Cyclohydrolase Deficiency Aicardi-Goutieres Syndrome ALA-D Porphyria Aldolase A Deficiency Alexander Disease Alkaptonuria Alpers Disease Alpha-1 Antitrypsin Deficiency

Alpha-Ketoglutarate Dehydrogenase Deficiency Alpha-Mannosidosis Alpha-Methylacyl CoA Racemase Deficiency Aminoacylase 1 Deficiency Arginase Deficiency Arginine:Glycine Amidinotransferase Deficiency Argininosuccinic Aciduria Aromatic L-Amino Acid Decarboxylase Deficiency Arts Syndrome Aspartylglucosaminuria ASMD Niemann-Pick disease type A ASMD Niemann-Pick disease type B B Beta-Aminoisobutyric Aciduria Beta-Enolase DeficiencyBetaKetothiolase Deficiency Alpha-Methylacetoacetic Beta-Mannosidosis Beta Ureidopropionase Deficiency Biotinidase Deficiency Biotin-Responsive Basal Ganglia Disease Byler Disease C Canavan Disease

A-Z of Inherited Metabolic Disorders Carbamoyl Phosphate Synthetase I Deficiency Carnitine-Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase II Deficiency Carnosinaemia Cerebral Folate Transport Deficiency Cerebrotendinous Xanthomatosis Cholesterol 7-Alpha Hydroxylase Deficiency Chylomicron Retention Disease Citrullinaemia Type 1 Citrullinaemia Type 2 CLN Disease (unknown type) CLN1 Batten Disease/PPT1 CLN10 Batten Disease CLN2 Batten Disease/TPP1 CLN3 Batten Disease CLN4 Batten Disease/DNAJC5 CLN5 Batten Disease CLN6 Batten Disease CLN7 Batten Disease/MFSD8 CLN8 Batten Disease CLN10 Batten Disease/CTSD CLN11 Batten Disease/GRN CLN12 Batten Disease/ATP13A2 CLN13 Batten Disease/CTSF CLN14 Batten Disease/KCTD7 Cobalamin Disorders (unknown type) Congenital Disorders of Glycosylation Congenital Erythropoietic Protoporphyria

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Carnitine-Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase II Deficiency Carnosinaemia Cerebral Folate Transport Deficiency Cerebrotendinous Xanthomatosis Cholesterol 7-Alpha Hydroxylase Deficiency Congenital Sucrase-Isomaltase Deficiency Crigler-Najjar Syndrome Type 1 Cutis Laxa, Autosomal Recessive, Type 2B Cystathioninuria Cystinosis Cystinuria Cytosolic Acetoacetyl CoA Thiolase Deficiency D D-2 Hydroxyglutaric Aciduria Danon Disease Delta 4-3-Oxysterol 5-BetaReductase Deficiency Deoxyguanosine Kinase Deficiency Desmosterolosis D-Glyceric Aciduria

A-Z of Inherited Metabolic Disorders DIBD1-CDG Dihydrolipoamide Dehydrogenase Deficiency Dihydropteridine Reductase Deficiency Dihydropyrimidinase Deficiency Dihydropyrimidine Dehydrogenase Deficiency DK1-CDG Dopamine Beta-Hydroxylase Deficiency DPAGT1-CDG DPM1-CDG E Erythropoietic Protoporphyria Essential Fructosuria Essential Pentosuria Ethylmalonic Encephalopathy F Fabry Disease Familial Abetalipoproteinaemia Familial Chylomicronaemia Syndrome Familial HDL Deficiency Familial Hypercholesterolaemia Familial Hypertryglyceridaemia Familial Hypobetalipoproteinaemia Familial Juvenile Hyperuricaemic Nephropathy Fanconi-Bickel Syndrome

Farber Disease Fibrous Dysplasia Fructose-1,6-bisphosphatase Deficiency Fucosidosis Fumarase Deficiency G GABA Transaminase Deficiency Galactokinase Deficiency Galactosaemia Galactosialidosis Gamma-Glutamylcysteine Synthetase Deficiency Gaucher Disease - Type 1 Gaucher Disease - Type 2 Gaucher Disease - Type 3 Generalised Arterial Calcification of Infancy Gilbert's Syndrome GLS1-CDG Glucose Galactose Malabsorption Glucose-6-Phosphate Dehydrogenase Deficiency GLUT1 Deficiency Syndrome Glutamate Formiminotransferase Deficiency Glutaric Aciduria Type 1 Glutaric Aciduria Type 2 Glutathione Synthetase Deficiency Glutathionuria

A-Z of Inherited Metabolic Disorders Glycerol Kinase Deficiency Glycine N-Methyltransferase Deficiency Glycogen Storage Disease (unknown type) Glycogen Storage Disease Type 0Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Glycogen Storage Disease Type III Glycogen Storage Disease Type IV Glycogen Storage Disease Type IX Glycogen Storage Disease Type V Glycogen Storage Disease Type VI Glycogen Storage Disease Type VII Glycogen Storage Disease Type VIII Glycogen Storage Disease Type X Glycogen Storage Disease Type XI Glycogen Storage Disease Type XIV Glycogen Storage Disease Type XV GM1 Gangliosidosis (unknown type) GM1 Gangliosidosis Type 1 GM1 Gangliosidosis Type 2 GM1 Gangliosidosis Type 3 GNE-CDG Greenberg Skeletal Dysplasia GTP Cyclohydrolase I Deficiency Guanidinoacetate Methyltransferase Deficiency Gyrate Atrophy H Haemosiderosis, Acquired Haptocorrin Deficiency

Hartnup Disease Hawkinsinuria Hereditary Coproporphyria Hereditary Folate Malabsorption Hereditary Fructose Intolerance Hereditary Haemochromatosis Hereditary Hyperphosphatasia Hermansky-Pudlak Syndrome HHH Syndrome Histidinaemia HMT1-CDG Holocarboxylase Synthetase Deficiency Homocarnosinosis Homocystinuria (Classical) HSD10 Deficiency HydroxykynureninuriaHydroxylysin uria Hyper-betaalaninaemiaHyperinsulinism/Hyp erammonaemia Hyperleucine Isoleucinaemia Hyperlipoproteinaemia Type 3 Hyperlysinaemia Hypermagnesaemia Hyperphenylalaninaemia (MildPKU) Hyperprolinaemia Type I Hyperprolinaemia Type II Hyperzincaemia and Hypercalprotectinemia Hypomagnesaemia

A-Z of Inherited Metabolic Disorders Hypophosphataemic Rickets with Hypercalcuria Hypophosphatasia - Adult Hypophosphatasia - Childhood Hypophosphatasia - Infantile Hypophosphatasia Odontohypophosphatasia Hypophosphatasia - Perinatal Hypophosphatasia Pseudohypophosphatasia Hypophosphatasia (unknown type) Hypoprolinaemia Hypotonia-Cystinuria Syndrome I Imerslund-Gräsbeck Syndrome Iminoglycinuria Inosine Triphosphatase Deficiency Intrinsic Factor Deficiency Isobutyric Aciduria Isolated Sulfite Oxidase Deficiency Isovaleric Acidaemia K Kearns Sayre Syndrome Krabbe Disease L L-2 Hydroxyglutaric Aciduria Lactate Dehydrogenase Deficiency

Lactose Intolerance Lathosterolosis Leber Hereditary Optic Neuropathy Lecithin Cholesterol Acyltransferase Deficiency Leigh Syndrome Lesch-Nyhan Syndrome Lethal Infantile Mitochondrial Myopathy Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Long-Chain Acyl CoA Dehydrogenase Deficiency Lowe Syndrome Lysinuric Protein Intolerance Lysosomal Acid Lipase Deficiency [CESD] Lysosomal Acid Lipase Deficiency [Wolman Disease] M Mabry Syndrome Malonyl CoA Decarboxylase Deficiency Maple Syrup Urine Disease Maternally Inherited Deafness and Diabetes Maternally Inherited Mitochondrial Cardiomyopathy Maternally Inherited Mitochondrial Dystonia

A-Z of Inherited Metabolic Disorders Maternally Inherited Mitochondrial Myopathy Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency Medium Chain Acyl CoA Dehydrogenase Deficiency MEGDEL Syndrome Menkes Disease Metachromatic Leukodystrophy Methacrylic Aciduria Methionine Adenosyltransferase I/III Deficiency Methionine Synthase Deficiency cblG Methionine Synthase Reductase Deficiency (Homocystinuria, cblE type) Methylenetetrahydrofolate Reductase Deficiency Methylglutaconic Aciduria (unknown type) Methylglutaconic Aciduria Type I Methylglutaconic Aciduria Type II (Barth Syndrome) Methylglutaconic Aciduria Type III Methylglutaconic Aciduria Type IV Methylglutaconic Aciduria Type V Methylmalonate Semialdehyde Dehydrogenase Deficiency Methylmalonic Acidaemia Methylmalonic Acidaemia and Homocystinuria Combined (Cbl C, D & F)

Mevalonate Kinase Deficiency MGAT2-CDG Microcephaly, Amish type Miller Syndrome Mitochondrial Disorder (unknown type) Mitochondrial DNA Depletion Syndrome (unknown type) Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes Mitochondrial Myopathy Mitochondrial Myopathy with Diabetes Mellitus Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency Mitochondrial Neurogastrointestinal Encephalopathy DiseaseMitochondrial Respiratory Chain Complex I Mitochondrial Respiratory Chain Complex II Mitochondrial Respiratory Chain Complex III Mitochondrial Respiratory Chain Complex IV Mitochondrial Respiratory Chain Complex V Mitochondrial Respiratory Chain Disorder (unknown type)

A-Z of Inherited Metabolic Disorders Mitochondrial Ribonucleotide Reductase Subunit 2 Deficiency Mitochondrial Trifunctional Protein Deficiency Mohr-Tranebjaerg Syndrome Molybdenum Cofactor Deficiency MPDU1-CDG MPI-CDG MPS (unknown type) MPS I, Hurler, Scheie Disease MPS II, Hunter Disease MPS IIIA, Sanfilippo A Disease MPS IIIB, Sanfilippo B Disease MPS IIIC, Sanfilippo C Disease MPS IIID, Sanfilippo D Disease MPS IVA, Morquio A Disease MPS IVB, Morquio B Disease MPS IX MPS VI, Maroteaux-Lamy Disease MPS VII, Sly Disease MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome Mucolipidosis II, I-cell Disease Mucolipidosis III, Pseudo-Hurler Polydystrophy Mucolipidosis IV Multiple Sulfatase Deficiency Myoadenylate Deaminase Deficiency Myoclonic Epilepsy Associated with Ragged Red Fibres

N N-Acetylglutamate Synthetase Deficiency Neuropathy Ataxia and Retinitis Pigmentosa Niemann Pick Disease (other) Niemann Pick Disease Type A Niemann Pick Disease Type B Niemann Pick Disease Type C Non-Ketotic Hyperglycinaemia NOT56L-CDG O Occipital Horn Syndrome Optic Atrophy 1 and Deafness Optic Atrophy Type 1 Ornithine Transcarbamylase Deficiency Orotic Aciduria Type I Orotic Aciduria Type II Osteogenesis Imperfecta Oxoprolinuria Oxysterol 7-Alpha-Hydroxylase Deficiency

A-Z of Inherited Metabolic Disorders P Paget's Disease Pancreatic Colipase Deficiency Pancreatic Triacylglycerol Lipase Deficiency Pantothenate Kinase-Associated Neurodegeneration Papilon-Lefèvre Syndrome Pearson Syndrome PEO1-related Hepatocerebral Mitochondrial DNA Depletion Syndrome Peroxisomal acyl-CoA Oxidase Deficiency Peroxisomal D-bifunctional Protein Deficiency Peroxisomal Disorder (unknown type) Phenylketonuria Phosphoenolpyruvate Carboxykinase Deficiency Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate Kinase Deficiency Phosphoribosyl Pyrophosphate Synthase Superactivity Phosphoribosyl Pyrophosphate Synthetase Deficiency Phosphoserine Aminotransferase Deficiency Phosphoserine Phosphatase Deficiency PMM2-CDG

Pompe Disease, GSD II Porphyria (unknown type) Porphyria Cutanea Tarda Type I (Sporadic) Porphyria Cutanea Tarda Type II (Familial) Primary Carnitine Deficiency Primary Hyperoxaluria Type I Primary Hyperoxaluria Type II Primary Idiopathic Gout Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis Type 3 Prolidase Deficiency Propionic Aciduria Prosaposin Deficiency Pterin 4 Carbinolamine Dehydratase Deficiency Purine Nucleoside Phophorylase Deficiency Pycnodysostosis Pyridoxamine 5'-Oxidase Deficiency Pyridoxine-Dependent Seizures Pyrimidine-5- Nucleotidase Deficiency Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency Pyruvate Kinase Deficiency

A-Z of Inherited Metabolic Disorders Q Quinoid Dihydropteridine Reductase Deficiency R Refsum Disease Retinol Binding Protein Deficiency RFT1-CDG Rhizomelic Chondrodysplasia Punctata, types 1, 2 & 3 Ribose-5-Phosphate Isomerase Deficiency RNASET2-deficient Cystic Leukoencephalopathy RRM2B-related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic form with Renal Tubulopathy S S-Adenosylhomocysteine Hydrolase Deficiency Salla Disease/Infantile Sialic Acid Storage Disease Sandhoff Disease - Infantile Form Sandhoff Disease - Juvenile Form Sandhoff Disease (unknown type) Sarcosinaemia

Schindler Disease Sepiapterin Reductase Deficiency Short Chain Acyl CoA Dehydrogenase Deficiency Sialidosis Sialuria Sideroblastic Anaemia and Spinocerebellar Ataxia Sitosterolaemia Sjorgren-Larsson Syndrome SLC35A1-CDG SLC35C1-CDG Smith-Lemli-Opitz Syndrome SRD5A3-CDG Sterol Carrier Protein Deficiency Succinate-CoA Ligase Deficiency Succinic Semialdehyde Dehydrogenase Deficiency Succinyl-CoA: 3-Oxoacid-CoA Transferase Deficiency T Tangier Disease Tay Sachs Disease - AB Variant Tay Sachs Disease - Infantile Form Tay Sachs Disease - Juvenile Form Tay Sachs Disease (unknown type)

A-Z of Inherited Metabolic Disorders Thiamine-Responsive Megaloblastic Anaemia Syndrome Thiopurine S-Methyltransferase Deficiency Thymidine Kinase 2 Deficiency Thymidine Phosphorylase Deficiency Transalodase Deficiency Transcobalamin II Deficiency Transcobalamin Receptor Defect Transient Tyrosinaemia of the Neonate Trehalase Deficiency Trimethylaminuria Triosephosphate Isomerase Deficiency Tryptophanaemia TTP1 Deficiency TUSC3-CDG Tyrosinaemia (unknown type) Tyrosinaemia Type I Tyrosinaemia Type II Tyrosinaemia Type III Tyrosine Hydroxylase Deficiency U Ubiquinone (CoQ10) Deficiency (Non-LS) Urea Cycle Disorder (unknown type) Uridine Disphosphate Galactose-4Epimerase Deficiency Uridine-5'-Monophosphate Hydrolase Superactivity Urocanase Deficiency

V Variegate Porphyria Very-Long Chain Acyl CoA Dehydrogenase Deficiency Vitamin K Epoxide Reductase Deficiency W Wilson Disease X Xanthinuria Type I Xanthinuria Type II X-Linked Adrenoleukodystrophy X-Linked Charcot-Marie Tooth Disease X-Linked Dominant Chondrodysplasia Punctata 2 X-Linked Dominant Protoporphyria X-linked Hypophosphatemic Rickets X-Linked Ichthyosis X-Linked Sensorineural Deafness X-Linked Sideroblastic Anaemia Z Zellweger Spectrum Disorder