Inherited Metabolic Disorders

Find out more about Inherited Metabolic Disorders

There are thousands of Inherited Metabolic Disorders and they can be very complex and difficult to describe. We have created this infographic video to help explain what an Inherited Metabolic Disorder is and the effects on the body. Use the sections below to find out more about each disorder, from diagnosis to everyday life.

A-Z of Inherited Metabolic Disorders

Start typing name of disorder…

Search by initial letter

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

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

Guanidinoacetate Methyltransferase Deficiency

H

I

J

K

Ketotic hypoglycaemia

Klippel-Feil Syndrome

L

Lysinuric Protein Intolerance

M

N

O

P

Q

R

S

T

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

Cookie	Duration	Description
AWSALB	7 days	AWSALB is a cookie generated by the Application load balancer in the Amazon Web Services. It works slightly different from AWSELB.
cookielawinfo-checkbox-functional	1 year	The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional".