LIST OF SUPPORTED INHERITED METABOLIC DISEASES


   
     
2-Aminoadipic 2-Oxoadipic Aciduria   AMOXAD/Adipic Aciduria
2-Methylbutyric Aciduria   Short Branched-Chain acyl-CoA Dehydrogenase Deficiency
3-Alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency   HADH Deficiency (Formerly SCHAD Deficiency)
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency   HMG-CoA Lyase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency   HMG-CoA Synthase Deficiency
3-Hydroxyisobutyric Aciduria    
6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency   PTPS Deficiency
 .    
A    
Acatalasaemia   Takahara’s Disease
Acrodermatatis Enteropathica   AE
Acute Hepatic Porphyria    
Acute Intermittent Porphyria   AIP
Adenine Phosphoribosyltransferase Deficiency   APRT Deficiency
Adenosine Deaminase Deficiency   ADA-SCID, ADA Deficiency
Adenylosuccinate Lyase Deficiency   ADSL Deficiency
Adrenoleukodystrophy   ALD
AICAR Transformylase Deficiency/IMP Cyclohydrolase Deficiency   ATIC Deficiency
Aicardi-Goutieres Syndrome   AGS
ALA-D Porphyria    
Aldolase A Deficiency    
Alexander Disease    
Alkaptonuria   AKU
Alpers Disease   Alpers-Huttenlocher Syndrome
Alpha-1 Antitrypsin Deficiency   AAT Deficiency
Alpha-Ketoglutarate Dehydrogenase Deficiency   2 Oxoglutarate Dehydrogenase Deficiency
Alpha-Mannosidosis    
Alpha-Methylacyl CoA Racemase Deficiency   AMACR Deficiency
Aminoacylase 1 Deficiency    
Arginase Deficiency   Argininaemia
Arginine:Glycine Amidinotransferase Deficiency   AGAT Deficiency
Argininosuccinic Aciduria   ASA
Aromatic L-Amino Acid Decarboxylase Deficiency   AADC Deficiency
Arts Syndrome    
Aspartylglucosaminuria   AGU
……..    
B    
Beta-Aminoisobutyric Aciduria    
Beta-Enolase Deficiency   Glycogen Storage Disease 13/ GSD XIII
Beta-Ketothiolase Deficiency   Alpha-Methylacetoacetic Aciduria
Beta-Mannosidosis    
Beta Ureidopropionase Deficiency   Beta-Alanine Synthase Deficiency
Biotinidase Deficiency   Multiple Carboxylase Deficiency
Biotin-Responsive Basal Ganglia Disease    
Byler Disease   Progressive Familial Intrahepatic Cholestasis 1 / PFIC 1
   
C    
Canavan Disease   Canavan Leukodystrophy / Aminoacylase 2 Deficiency
Carbamoyl Phosphate Synthetase I Deficiency   CPS I Deficiency
Carnitine-Acylcarnitine Translocase Deficiency   CACT Deficiency
Carnitine Palmitoyltransferase I Deficiency   CPT I Deficiency
Carnitine Palmitoyltransferase II Deficiency   CPT II Deficiency
Carnosinaemia   Carnosinase Deficiency
Cerebral Folate Transport Deficiency    
Cerebrotendinous Xanthomatosis   CTX
Cholesterol 7-Alpha Hydroxylase Deficiency   CYP7A1 Deficiency
Chylomicron Retention Disease   Anderson Disease
Citrullinaemia Type 1    
Citrullinaemia Type 2   Citrin Deficiency
CLN1 Disease, Infantile   Batten Disease – Infantile
CLN2 Disease, Late Infantile   Batten Disease – Late Infantile
CLN3 Disease, Juvenile   Batten Disease – Juvenile
CLN4 Disease   Kufs Disease / Batten Disease – Adult Form
CLN5 Disease, Variant Late-Infantile   Batten Disease – Variant Late-Infantile Form
CLN6 Disease, Variant Late-Infantile   Batten Disease – Variant Late-Infantile Form
CLN7 Disease, Variant Late-Infantile   Batten Disease – Variant Late-Infantile Form
CLN8 Disease, Variant Late Infantile   Batten Disease – Variant Late Infantile Form / Epilepsy with Progressive Mental Retardation / Batten Disease – Northern Epilepsy
CLN10 Disease    Cathepsin D Deficiency
Congenital Disorders of Glycosylation    CDG
Congenital Erythropoietic Protoporphyria   CEP / Günther’s Disease
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects   CHILD Syndrome
Congenital Sucrase-Isomaltase Deficiency    CSID
Crigler-Najjar Syndrome Type 1    CN1
Cutis Laxa, Autosomal Recessive, Type 2B    
Cystathioninuria    Cystathionase Deficiency
Cystinosis    
Cystinuria    
Cytosolic Acetoacetyl CoA Thiolase Deficiency    
….    
D    
D-2 Hydroxyglutarate Dehydrogenase Deficiency    D2HGDH Deficiency
Danon Disease    Glycogen Storage Disease Type 2b
Defect in Adenosylcobalamin Sythesis – Cbl A    
Defect in Adenosylcobalamin Sythesis – Cbl B    
Defect in Adenosylcobalamin Sythesis – Cbl C – HCU    
Defect in Adenosylcobalamin Sythesis – Cbl D -MMA    
Delta 4-3-Oxysterol 5-Beta Reductase Deficiency    
Deoxyguanosine Kinase Deficiency    
Desmosterolosis    
D-Glyceric Aciduria    
Dihydrolipoamide Dehydrogenase Deficiency    
Dihydroorotate Dehydrogenase Deficiency    
Dihydropyrimidinase Deficiency    
Dihydropyrimidine Dehydrogenase Deficiency    
Disaccharide Intolerance I    
Disorder of Low Density Lipoprotein Receptor    
Dopamine Beta-Hydroxylase Deficiency    
 ….    
E    
Encephalomyopathy with Renal Tubulopathy    
Encephalomyopathy with Methylmalonic Aciduria    
Enterocyte Intrinsic Factor Receptor Deficiency    
Erythropoietic Protoporphyria   EPP
Essential Fructosuria    
Essential Pentosuria    
Ethylmalonic Encephalopathy    
Exercise Intolerance with Lactic Acidosis    
EXT1 Deficiency    
EXT2 Deficiency    
….    
F    
Fabry Disease    
Familial Abetalipoproteinaemia    
Familial Chylomicronaemia    
Familial Combined Hyperlipoproteinaemia    
Familial Dysbetalipoproteinaemia    
Familial HDL Deficiency   Familial Hypoalphalipoproteinaemia
Familial Hyperalphalipoproteinaemia    
Familial Hypercholesterolaemia    
Familial Hypertriglyceridaemia    
Familial Hypoalphalipoproteinaemia    
Familal Hypobetalipoproteinaemia    
Familial Juvenile Hyperuricaemic Nephropathy   FJHN
Farber Disease    
Fatal Infantile Lactic Acidois with Methylmalonic Aciduria    
Fructose-1,6-Bisphosphatase Deficiency    
Fucosidosis    
Fukutin Deficiency    
Fukutin-Related Protein Deficiency    
Fumarase Deficiency    
   
G    
GABA Transaminase Deficiency    
Galactokinase Deficiency    
Galactosaemia   Classical Galactosaemia
Galactosialidosis    
Gamma-Glutamylcysteine Sythetase Deficiency    
Gaucher Disease    
Glucose Galactose Malabsorption    
Glucose-6-Phosphate Dehydrogenase Deficiency   G6PD
GLUT1 Deficiency Syndrome   Glucose Transporter Type 1 Deficiency
Glutamate Formimotransferase Deficiency    
Glutamine Synthetase Deficiency    
Glutaric Aciduria Type 1   GA1/ Glutaric Acidemia Type 1
Glutaric Aciduria Type 2   GA2 / MADD / Multiple-acyl-CoA Dehydrogenase Deficiency/ Glutaric Acidemia Type 2
Glutaryl CoA Oxidase Deficiency    
Glutathione Sythetase Deficiency    
Glutathionuria    
Glycerol Kinase Deficiency    
Glycine-N-Methyltransferase Deficiency    
Glycogen Storage Disease Type Oa   GSD Oa
Glycogen Storage Disease Type Ob   GSD Ob
Glycogen Storage Disease Type Ia   GSD Ia / Von Gierke Disease / Glucose-6-Phosphatase Deficiency
Glycogen Storage Disease Type Ib   GSD Ib
Glycogen Storage Disease Type II   GSD II / Pompe Disease
Glycogen Storage Disease Type III   GSD III / Cori Disease
Glycogen Storage Disease Type IV   GSD IV / Andersen Disease
Glycogen Storage Disease Type IX   GSD IX
Glycogen Storage Disease Type V   GSD V / McArdle Disease
Glycogen Storage Disease Type VI   GSD VI / Hers Disease
Glycogen Storage Disease Type VII   GSD VII / Tarui Disease
Glycogen Storage Disease Type X   GSD X
Glycogen Storage Disease Type XI   GSD XI
Glycogen Storage Disease Type XIV   GSD XIV
Glycogen Storage Disease Type XV   GSD XV
GM1 Gangliosidosis    
GM2 Gangliosidosis    
GRACILE Syndrome    
Greenberg Skeletal Dysplasia    
Guanidinoacetate Methyltransferase Deficiency   GAMT
Guanosine 5 Triphosphate Cyclohydrolase Deficiency    
Gyrate Atrophy   Ornithine Aminotransferase Deficiency
….    
H    
Haemosiderosis, Acquired    
Haptocorrin Deficiency    
Hartnup Disease    
Hawkinsuria    
Hepatic Lipase Deficiency    
Hereditary Coproporphyria    
Hereditary Folate Metabolism    
Hereditary Fructose Intolerance    
Hereditary Haemochromatosis    
Hermansky-Pudlak Syndrome    
Hexokinase Deficiency    
HHH Syndrome    
Histidinaemia    
Holocarboxylase Synthetase Deficiency    
Homocarnosinosis    
Homocystinuria   HCU / Cystathionase Beta Synthase Deficiency (Classical HCU)
HSD10 Deficiency   2-Methyl-3-Hydroxybutyric Aciduria
Hydroxykynureinuria    
Hyper-beta-alinaemia    
Hyperinsulinism Hypoglycaemia and Hyperammonaemia (GLUD1 Gene)    
Hyperleucine-Isoleucinemia    
Hyperlysinaemia Type I    
Hyperlysinaemia Type II    
Hyperzincaemia and Hypercalprotectinaemia    
Hypomagnesaemia, Primary    
Hypomagnesaemia, Secondary    
Hypomagnesaemic Tetany    
Hypophosphatasia   HPP
Hypoprolinaemia    
Hypotonia-Cystinuria Syndrome    HCS
   
 I    
Iminoglycinuria    
Infantile Refsum Disease   IRD
Inoserine Triphosphatase Deficiency    
Intrinsic Factor Deficiency    
Isobutyric Aciduria    
Isolated Suphite Oxidase Deficiency    
Isovaleric Acidaemia   IVA
   
K    
Kearns Sayre Syndrome   KSS
Krabbe Disease    
   
L    
L2 Hydroxyglutaric Aciduria    
Lactose Intolerance    
Lactosylceramide Alpha-2,3-Sialytransferase Deficiency    
Lafora Body Disease    
Latherosterolosis    
Leber Hereditary Optic Neuropathy   LHON
Lecithin Cholesterol Acyltransferase Deficiency   LCAT Deficiency
Leigh Syndrome   Leigh Disease
Lesch-Nyhan Syndrome    
Lethal Infantile Mitochondrial Myopathy    
Long-Chain acyl CoA Dehydrogenase Deficiency   LCADD
Lowe Syndrome    
Lysinuric Protein Intolerance    
   
M    
Malonyl CoA Decarboxylase Deficiency    
Maple Syrup Urine Disease    MSUD
Marinesco Sjogren Syndrome    
Maternally Inherited Diabetes and Deafness    
Medium Chain Acyl CoA Dehydrogenase Deficiency   MCADD
Menkes Disease    
Metachromatic Leukodytrophy   MLD
Methionine Adenosyltransfersase I/II Deficiency    
Methionine Synthase Deficiency, CblG    
Methionine Synthase Reductase Deficiency, CblE    
Methylacrylic Aciduria    
Methylcrotonylglycinuria    
Methylenetetrahydrofolate Reductase Deficiency   MTHFR Deficiency
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 with Homocystinuria, Cbl C    
Methylmalonic Acidaemia with Homocystinuria, Cbl D    
Methylmalonic Acidaemia with Homocystinuria, Cbl F    
Methylmalonic Aciduria   MMA
Methylmalonyl-CoA Epimerase Deficiency   GAMT
Methylmalonyl-CoA Mutase Deficiency    
Mevalonate Kinase Deficiency    
Microcephaly, Amish Type    
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes   MELAS
Mitochondrial Isocitrate Dehydrogenase Deficiency    
Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency    
Mitochondrial Nasogastrointestinal Encephalopathy Disease    
Mitochondrial Protein Translation Defects    
Mitochondrial 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 Ribonucleotide Reductase Subunit 2 Deficiency    
Mitochondrial Trifunctional Protein Deficiency    
Mohr-Tranebjaerg Syndrome    
Molybdenum Cofactor Deficiency   HCP
Morquio B Disease    
MPS I   Hurler, Scheie Disease
MPS II   Hunter Syndrome
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
Mucolipidosis II   I-Cell Disease
Mucolipidosis III   Pseudo-Hurler Polydystrophy
Mucolipidosis IV    
Multiple Acyl CoA Dehydrogenase Deficiency    
Multiple Sufatase Deficiency    
Muscle LDH Deficiency    
Muscle Phosphoglycerate Kinase Deficiency    
Myoadenylate Deaminase Deficiency    
Myoclonic Epilepsy with Ragged Red Fibres   MERRF
   
N    
N-Acetylglucosaminyltransferase-Like Protein Deficiency    
N-Acetylglutamate Synthetase Deficiency   NAGS
Neonatal Adrenoleukodystrophy   NALD
Neonatal Haemochromatosis    
Neuropathy Ataxia and Retinitis Pigmentosa   NARP
Niemann Pick Disease Types A & B   NP-A / NP-B
Niemann-Pick Disease Type C   NP-C
Non-Ketotic Hyperglycinaemia   NKH
   
O    
O-Fucose-Specific Beta-1,3-N-Acetylglucosaminyltransferase Deficiency    
O-Fucose-Specific Beta-1,3-N-Acetylglucosyltransferase Deficiency    
Optic Atrophy 1 and Deafness    
Optic Atrophy Type 1    
Ornithine Transcarbamylase Deficiency   OTC
Orotic Aciduria Type I    
Orotic Aciduria Type II    
Osteogenesis Imperfecta   OI / Brittle Bone Disease
Oxoprolinuria    
Oxysterol 7-Alpha-Hydroxylase Deficiency    
   
P    
Pancreatic Colipase Deficiency    
Pancreatic Triacylglycerol Lipase Deficiency    
Pantothenate Kinase Deficiency    
Papilon-Lefevre Syndrome    
Pelizaeus Merzbacher Disease   PMD
Phenylketonuria   PKU / Hyperphenylalanaemia
Phosphoglycerate Dehydrogenase Deficiency    
Phosphoribosyl Pyrophosphate Synthase Superactivity    
Phosphoribosyl Pyrophosphate Synthetase 1 Defects    
Phosphoserine Aminotransferase Deficiency    
Phosphoserine Phosphatase Deficiency    
Polypeptide N-Acetylgalactosaminyl Transferase Deficiency    
Porphyria Cutanea Tarda    PCT
Primary Carnitine Deficiency   Carnitine Transporter Deficiency
Primary Hyperoxaluria Type I    
Primary Hyperoxaluria Type II    
Primary Idiopathic Gout    
Progressive External Ophthalmoplegia Autosomal Dominant    
Progressive External Ophthalmoplegia Autosomal Recessive    
Progressive Familial Intrahepatic Cholestasis Type 2    
Progressive Familial Intrahepatic Cholestasis Type 3    
Prolidase Deficiency    
Propionic Acidaemia   PA
Prosaposin Deficiency    
Protein-O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase Deficiency    
Protein-O-Mannosyltransferase 1 Deficiency    
Protein-O-Mannosyltransferase 2 Deficiency    
Pterin 4 Carbinolamine Dehydratase Deficiency    
Pure Mitochondrial Myopathy    
Purine Nucleoside Phosphorylase Deficiency    
Pycnodysostosis    
Pyridoxamine 5′-Oxidase Deficiency    
Pyridoxine Deficiency    
Pyridoxine Dependent Seizures    
Pyridoxine Responsive Seizures    
Pyrimidine-5-Nucleotidase Deficiency    
Pyruvate Carboxylase Deficiency    
Pyruvate Dehydrogenase Deficiency    
Pyruvate Dehydrogenase Phosphatase Deficiency    
Pyruvate Kinase Deficiency    
   
Q    
Quinoid Dihydropteridine Reductase Deficiency    
   
R    
Refsum Disease   Phytanic Acid Storage Disease
Renal Tubulopathy, Encephalopathy and Liver Failure    
Retinol Binding Protein Deficiency    
Reye’s Syndrome    
Rhizomelic Chondrodysplasia Punctata Types 1,2 & 3   RCP 1,2 & 3
Ribose-5-Phosphate Isomerase Deficiency    
RNASET2-Deficient Cystic Leukoencephalopathy    
   
S    
S-Adenosylhomocysteine Hydrolase Deficiency    
Sarcosinaemia    
Schindler Disease    
Sensory Ataxia Neuropathy, Dysarthia and Ophthalmoparesis    
Sepiapterin Reductase Deficiency   SPR Deficiency
Short Chain acyl CoA Dehydrogenase Deficiency   SCADD
Shwachman Syndrome    
Sialidosis    
Sialuria    
Sideroblastic Anaemia and Spinocerebellar Ataxia    
Sitosterolaemia    
Sjogren-Larsson Syndrome    
Smith-Lemli-Opitz Syndrome    
Sporadic Leigh Syndrome    
Sterol Carrier Protein Deficiency    
Succinic Semialdehyde Dehydrogenase Deficiency    
Succinyl-CoA 3-Oxoacid-CoA Transferase Deficiency    
   
T    
Tangier Disease   Alphalipoproteinemia
Tay-Sachs Disease    
Thiamine-Responsive Megaloblastic Anaemia Syndrome    
Thiopurine S-Methyltransferase Deficiency    
Thymidine Kinase 2 Deficiency    
Thymidine Phosphorylase Deficiency    
Transaldolase Deficiency    
Trancobalamin II Deficiency    
Transient Tyrosinaemia of the Neonate    
Trehalase Deficiency    
Trimethylaminuria   TMAU
Tryptophanaemia    
TTP1 Deficiency    
Tyrosinaemia Type I    HT-1
Tyrosinaemia Type II    
Tyrosinaemia Type III    
Tyrosine Hydroxylase Deficiency    
   
U    
Ubiquinone (CoQ10) Deficiency (LS)    
Uridine Disphosphate-Galactose-4-Epimerase Deficiency    
Uridine-5′-Monophosphate Hydrolase Deficiency    
Urocanase Deficiency    
   
V    
Variegate Porphyria    
V-ATPase Deficiency    
Very-Long Chain Acyl CoA Dehydrogenase Deficiency   VLCADD
Vitamin K Epoxide Reductase Deficiency    
   
W    
Wilson Disease   WS
Wolman Disease/Cholesterol Ester Storage Disease   CESD/ LAL-D LAL Deficiency / Lysosomal Acid Lipase Deficiency
 ….    
X    
Xanthinuria Type I    
Xanthinuria Type II    
X-Linked Adrenoleukodystrophy   X-ALD
X-Linked Charcot Marie Tooth Disease – 5    
X-Linked Creatine Deficiency    Creatine Transporter Deficiency
X-Linked Dominant Chondrodysplasia Punctata    
X-Linked Hypophosphataemic Rickets   XLH
X-Linked Dominant Protoporphyria    
X-Linked Ichthyosis    
X-Linked Sensorineural Deafness    
X-Linked Sideroblastic Anaemia    
   
Z    
Zellweger Spectrum Disorder, Unclassified    
Zellweger Syndrome    
Source
https://www.metabolicsupportuk.org/disorders/