Individual Disorders - Metabolic Support UK

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A-C D-F G-I J-L M-N O-R S-V W-Z 0-9

A

Acatalasaemia (Takahara's Disease)

Acatalasemia

Acrodermatitis Enteropathica

Acute Intermittent Porphyria

Adenylosuccinate Lyase Deficiency

Adrenomyeloneuropathy

AICAR Transformylase/IMP Cyclohydrolase Deficiency

Aicardi-Goutieres Syndrome

ALA-D Porphyria

Alkaptonuria

Alpers Syndrome

Alpha-Ketoglutarate Dehydrogenase Deficiency

Alpha-Methylacyl CoA Racemase Deficiency

Aminoacylase 1 Deficiency

Arginine Glycine Amidinotransferase Deficiency

Argininosuccinic Aciduria

Aromatic L-Amino Acid Decarboxylase Deficiency

Asparagine Synthetase Deficiency

Aspartylglucosaminuria

B

B4GALT1-CDG

Beta-Aminoisobutyric Aciduria

Beta-Enolase Deficiency

Beta-Ketothiolase Deficiency

Beta-Mannosidosis

Beta-Ureidopropionase Deficiency

Biotin-Responsive Basal Ganglia Disease

Biotinidase Deficiency

Byler Disease

C

Canavan Disease

Carbamoyl phosphate synthetase I deficiency

Carbamoylphosphate Synthetase I Deficiency

Carbonic Anhydrase 5a 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

Cholesteryl Ester Transfer Protein Deficiency

Chylomicron Retention Disease

Citrin Deficiency

Citrullinaemia Type 1

Citrullinaemia Type 2

CLN Disease (unknown type)

CLN1 Disease, Infantile

CLN10 Disease

CLN2 Disease, Late-Infantile

CLN3 Disease, Juvenile

CLN4 Disease, Kufs Disease

CLN5 Disease, Variant Late-Infantile

CLN6 Disease, Variant Late-Infantile

CLN7 Disease, Variant Late-Infantile

CLN8 Disease, Variant Late-Infantile

Cobalamin Disorders (unknown type)

COG Complex Deficiency

Congenital Bile Acid Synthesis Defect Type 1

Congenital Disorders of Glycosylation ((CDG))

Congenital Disorders of Glycosylation (unknown type)

Congenital Erythropoietic Porphyria

Congenital Hemidysplasia with Ichtyosiform Erythroderma and Limb Defects

Congenital sucrase-isomaltase deficiency

Creatine Transporter Deficiency

Crigler-Najjar Syndrome Type 1

Crigler-Najjar Syndrome Type 2

Cystathioninuriua

Cystinosis

Cystinuria

Cytosolic Acetoacetyl-CoA Thiolase Deficiency

D

D-2 Hydroxyglutaric Aciduria

D-Glyceric Aciduria

Danon Disease

Delta 4-3-Oxysterol 5-Beta-Reductase Deficiency

Deoxyguanosine Kinase Deficiency

Desmosterolosis

DIBD1-CDG

Dihydrolipoamide Dehydrogenase 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

Fructose-1,6-bisphosphatase Deficiency

Fucosidosis

Fumarase Deficiency

G

GABA Transaminase Deficiency

Galactokinase Deficiency

Galactosaemia

Galactosialidosis

GLS1-CDG

Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-Galactose Malabsorption

GLUT1 Deficiency Syndrome

Glutaric Aciduria Type 1

Glutaric Aciduria Type 2

Glutathione Synthetase Deficiency

Glutathionuria

Glycerol Kinase Deficiency

Glycine N-Methyltransferase Deficiency

GM3 Synthase Deficiency

GNE-CDG

Guanidinoacetate Methyltransferase Deficiency

H

I

J

K

Ketotic hypoglycaemia

Klippel-Feil Syndrome

L

Lysinuric Protein Intolerance

M

N

O

P

Q

R

S

T

Tyrosinaemia Type 1

Tyrosinaemia type 3

Tyrosinaemia Type II

Tyrosinaemia (unknown type)

U

V

W

X

Y

Z

0

1

2

2-Aminoadipic Aciduria 2 Oxoadipic Aciduria

2-Methylbutyryl-CoA dehydrogenase deficiency

3

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency

3-Hydroxyacyl-CoA Dehydrogenase Deficiency

3-Methylcrotonyl CoA Carboxylase Deficiency

4

5

6

6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency

7

8

9

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