Metabolic disorders | Page 1

1 Diseases

17-alpha-hydroxylase deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency 18 Hydroxylase deficiency

2 Diseases

2-Hydroxyglutaric aciduria 2-methyl-3-hydroxybutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency

3 Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3-Hydroxyisobutyric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

5 Diseases

5-oxoprolinase deficiency

6 Diseases

6-pyruvoyl-tetrahydropterin synthase deficiency

A Diseases

Abdominal obesity metabolic syndrome Abetalipoproteinemia Acatalasemia Aceruloplasminemia Acetyl-carnitine deficiency Acetyl CoA acetyltransferase 2 deficiency Acrodermatitis enteropathica Acromegaly Acute intermittent porphyria Adenine phosphoribosyltransferase deficiency Adenosine deaminase deficiency Adenosine monophosphate deaminase 1 deficiency Adenylosuccinase deficiency Adrenomyeloneuropathy Adult polyglucosan body disease Albinism deafness syndrome Albinism ocular late onset sensorineural deafness ALG11-CDG (CDG-Ip) ALG12-CDG (CDG-Ig) ALG13-CDG ALG1-CDG (CDG-Ik) ALG2-CDG (CDG-Ii) ALG3-CDG (CDG-Id) ALG6-CDG (CDG-Ic) ALG8-CDG (CDG-Ih) ALG9-CDG (CDG-IL) Alkaptonuria Alpers syndrome Alpha-1 antitrypsin deficiency Alpha-ketoglutarate dehydrogenase deficiency Alpha-mannosidosis Aminoacylase 1 deficiency Anemia due to Adenosine triphosphatase deficiency Anemia sideroblastic and spinocerebellar ataxia Apparent mineralocorticoid excess Arginase deficiency Argininosuccinic aciduria Aromatic L-amino acid decarboxylase deficiency Arthrogryposis renal dysfunction cholestasis syndrome Arts syndrome Aspartylglycosaminuria Ataxia with oculomotor apraxia type 1 Ataxia with vitamin E deficiency Atransferrinemia Atypical Gaucher disease due to saposin C deficiency Autoimmune polyglandular syndrome type 2 Autosomal dominant neuronal ceroid lipofuscinosis 4B Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy plus syndrome Autosomal recessive neuronal ceroid lipofuscinosis 4A Autosomal recessive spastic ataxia 4 Autosomal recessive spinocerebellar ataxia 9

B Diseases

B4GALT1-CDG (CDG-IId) Bantu siderosis Barth syndrome Bartter syndrome Bartter syndrome antenatal type 1 Bartter syndrome antenatal type 2 Bartter syndrome type 3 Bartter syndrome type 4 Beta ketothiolase deficiency Biotinidase deficiency Biotin-thiamine-responsive basal ganglia disease Bjornstad syndrome Blue diaper syndrome

C Diseases

Carbamoyl phosphate synthetase 1 deficiency Carnitine-acylcarnitine translocase deficiency Carnitine palmitoyl transferase 1A deficiency Carnosinemia Central diabetes insipidus Cerebral folate deficiency Cerebrotendinous xanthomatosis Ceroid lipofuscinosis neuronal 1 Chanarin-Dorfman syndrome Chediak-Higashi syndrome Childhood hypophosphatasia CHILD syndrome Cholesteryl ester storage disease Chondrocalcinosis 1 Chondrocalcinosis 2 Chondrocalcinosis due to apatite crystal deposition Chondrodysplasia punctata 1, X-linked recessive Chronic progressive external ophthalmoplegia Chylomicron retention disease Citrullinemia type II Citrulline transport defect COG1-CDG (CDG-IIg) COG4-CDG (CDG-IIj)