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
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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 Congenital Adrenal Hyperplasia		CHILD Syndrome CAH
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
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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