Disorders

List of Supported Inherited Metabolic Disorders

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Name Also Known As
Disorders Beginning with a Number
 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-Tetrahydropterin Synthase Deficiency  6PTS
 .
A
Acatalasaemia Takahara’s Disease
Acrodermatatis Enteropathica AE
Acute Hepatic Porphyria
Acute Intermittent Porphyria AIP
Adenine Phosphoribosyl Transferase Deficiency Marie Disease
Adenoine Deaminase Deficiency
Adenosine Deaminase Superactivity
Adenylosuccinate Lyase Deficiency ADSL Deficiency
AICAR Transformylase Deficiency
Aicardi-Goutieres Syndrome AGS
ALA-D Porphyria
Aldolase A Deficiency
Alexander Disease
Alkaptonuria AKU
Alpers-Huttenlocher Syndrome Alpers Disease
Alpha-1 Antitrypsin Deficiency
Alpha D Mannosidosis
Alpha-Ketoglutarate Dehydrogenase Deficiency 2 Oxoglutarate Dehydrogenase Deficiency
Alpha-Methylacetoacetic Aciduria
Alpha-Methylacyl CoA Racemase Deficiency
Aminoacylase 1 Deficiency
Aminoacylase 2 Deficiency Canavan Disease
Anderson Disease
Apolipoprotein A-I Deficiency
Argininaemia Arginase Deficiency
Arginine:Glycine Amidinotransferase Deficiency
Argininosuccinic Aciduria
Aromatic L-Amino Acid Decarboxylase Deficiency
Arts Syndrome
Aspartylglucosaminuria
……..
B
Beta D Mannosidosis
Beta Enolase Deficiency
Beta Ureidopropionase Deficiency
Beta-1,4-Galactosyltransferase Deficiency
Beta-Aminoisobutyrate-Pyruvate Transaminase Deficiency
Bilirubin UDP-Glucuronosyltransferase 1 Deficiency
Biotinidase Deficiency
Biotin-Responsive Basal Ganglia Disease
Branched-Chain Amino Acid Transferase
Byler Disease
C
 Carbamoylphosphate Transferase Deficiency
 Cardio-Encephalopathy with Hyperammonaemia
 Carnitine Acyl Carnitine Translocase Deficiency
 Carnitine Palmitoyltransferase I Deficiency
 Carnitine Palmitoyltransferase II Deficiency
 Carnitine Transporter Deficiency
 Carnosinaemia
 Cerebral Folate Deficiency (FOLR1 Deficiency)
 Cerebrotendinous Xanthomatosis
Childhood-Onset Autosomal Dominant Optic Atrophy
Cholesterol 7-Alpha Hydroxylase
Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy
Citrullinaemia Type 1
Citrullinaemia Type 2 Citrin Deficiency
CLN1 Santavuori-Haltia Disease
CLN2 Jansky-Bielschowsky Disease
CLN3 Batten Spielmeyer-Vogt Disease
CLN4 Kufs Disease / Batten Disease – Adult Form
CLN5 Batten Disease – Finnish Variant
CLN6
CLN7
CLN8 Batten Disease – Northern Epilepsy
CLN9
COG Complex Deficiency
Combined Defect in Adenosylcobalamin and Methylcobalamin Sythesis – Cbl C
Combined Defect in Adenosylcobalamin and Methylcobalamin Sythesis – Cbl D
Combined Defect in Adenosylcobalamin and Methylcobalamin Sythesis – Cbl F
Complex Glycerol Kinase Deficiency
Congenital Erythropoietic Protoporphyria CEP
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Creatine Transporter Deficiency
Cubulin Deficiency
Cutanea Tarda Porphyria
Cutis Laxa, Autosomal Recessive, Type IIb
Cystathionase Deficiency
Cysteinylglycinase Deficiency
Cystinosis
Cystinuria
Cystinuria-Hypotonia Syndrome
Cytosolic Acetoacetyl CoA Thiolase Deficiency
….
D
D-2 Hydroxyglutarate Dehydrogenase Deficiency
Danon Disease
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 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 Transporter 1 Deficiency GLUT-1 Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
Glutamate Formimotransferase Deficiency
Glutamine Synthetase Deficiency
Glutaric Aciduria Type 1 GA1
Glutaric Aciduria Type 2 GA2 / MADD
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
….
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)
Hyperlysinaemia Type I
Hyperlysinaemia Type II
Hyperzincaemia and Hypercalprotectinaemia
Hypomagnesaemia, Primary
Hypomagnesaemia, Secondary
Hypomagnesaemic Tetany
Hypophosphatasia  HPP
Hypoprolinaemia
 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
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
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 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
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
Ornithine Aminotransferase Deficiency
Ornithine Transcarbamylase Deficiency OTC
Orotic Aciduria Type I
Orotic Aciduria Type II
Oxoprolinuria
Oxysterol 7-Alpha-Hydroxylase Deficiency
P
Pancreatic Colipase Deficiency
Pancreatic Triacylglycerol Lipase Deficiency
Pantothenate Kinase Deficiency
Papilon-Lefevre Syndrome
Pelizaeus Merzbacher Disease
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
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 Complex 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
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
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 Dominant Chondrodysplasia Punctata
X-Linked Dominant Protoporphyria
X-Linked Ichthyosis
X-Linked Sensorineural Deafness
X-Linked Sideroblastic Anaemia
Z
Zellweger Spectrum Disorder, Unclassified
Zellweger Syndrome