Metabolic Disorders

Lipid metabolism disorders
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-hydroxyisobutyrate dehydrogenase deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency - MCC1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency - MCC2 deficiency
3-methylglutaconyl-CoA hydratase deficiency - 3-methylglutacon aciduria type 1
Acute recurrent rhabdomyolysis - Myoglobinuria acute recurrent
Acyl-CoA oxidase deficiency
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adrenoleukodystrophy X-linked
Alpha-methylacyl-CoA racemase deficiency
Argininosuccinate lyase deficiency
Aromatic-L-amino-acid decarboxylase deficiency
Beta-ureidopropionase deficiency
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine-acylcarnitine translocase deficiency
CHILD syndrome
Chitotriosidase deficiency
Chondrodysplasia punctata 2 - CDPX2 - Conradi-Hunermann-Happle syndrome
CK syndrome
D-bifunctional protein deficiency - DBPD
Desmosterolosis
Dihydropyrimidinase Deficiency
Dihydropyrimidine dehydrogenase deficiency
Dopa responsive dystonia
Ethylmalonic encephalopathy
Galactokinase deficiency
Galactosemia
Glutaric acidemia type IIA
Glutaric acidemia type IIB
Glutaric acidemia type IIC
Glutaric aciduria type 1 - Glutaric acidemia type 1 - Glutaryl-CoA dehydrogenase deficiency
Glycogen storage disease type 0 - GSD 0
Glycogen storage disease X - Phosphoglycerate mutase deficiency muscle specific
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
HPRT-related gout - Hypoxanthine-guanine phosphoribosyl transferase deficiency
Hyperlysinemia
Hypothyroidism
Isovaleric acidemia - Isovaleryl-CoA dehydrogenase deficiency
Lathosterolosis
Lesch-Nyhan syndrome
Lipodystrophy
Lysosomal storage disorders
Malignant hyperphenylalaninemia - GTP cyclohydrolase I deficiency
Medium-chain acyl-Coenzyme A dehydrogenase deficiency
Methylmalonyl-CoA epimerase deficiency - Methylmalonic aciduria III
Mevalonate kinase deficiency
Mevalonic aciduria
Mitochondrial DNA depletion syndrome 9 - SUCLG1 deficiency
Mitochondrial trifunctional protein deficiency
Monocarboxylate transporter member 1 (MCT1) deficiency
Multiple acyl-CoA dehydrogenase deficiency
Niemann Pick disease type A
Niemann Pick disease type B
Niemann Pick disease type C1
Niemann Pick disease type C2
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4A
Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 9B - Refsum disease
Phosphoribosyl pyrophosphate synthetase 1 superactivity
Phytanoyl-CoA 2-hydroxylase deficiency - Refsum disease
Primary carnitine deficiency
Primary hyperoxaluria type 1
Primary hyperoxaluria type II
Primary hyperoxaluria type III
Purine nucleoside phosphorylase deficiency
Rhizomelic chondrodysplasia punctata type 1 - RCDP1
Rhizomelic chondrodysplasia punctata type 2 - RCDP2
Rhizomelic chondrodysplasia punctata type 3 - RCDP3
Riboflavin deficiency
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome - SLOS
SUCLA2 deficiency - Myopathic mitochondrial DNA depletion syndrome
Thymidine phosphorylase deficiency - Mitochondrial neurogastrointestinal encephalomyopathy
Tyrosine hydroxylase deficiency - Segawa syndrome
Very-long-chain acyl-Coenzyme A dehydrogenase deficiency - VLCAD deficiency
Zellweger spectrum disorders
Zellweger syndrome

Lipid metabolism disorders

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

3-hydroxyisobutyrate dehydrogenase deficiency

3-hydroxyisobutyryl-CoA hydrolase deficiency

3-methylcrotonyl-CoA carboxylase 1 deficiency - MCC1 deficiency

3-methylcrotonyl-CoA carboxylase 2 deficiency - MCC2 deficiency

3-methylglutaconyl-CoA hydratase deficiency - 3-methylglutacon aciduria type 1

Acute recurrent rhabdomyolysis - Myoglobinuria acute recurrent

Acyl-CoA oxidase deficiency

Adenine phosphoribosyltransferase deficiency

Adenosine deaminase deficiency

Adrenoleukodystrophy X-linked

Alpha-methylacyl-CoA racemase deficiency

Argininosuccinate lyase deficiency

Aromatic-L-amino-acid decarboxylase deficiency

Beta-ureidopropionase deficiency

Brown-Vialetto-Van Laere syndrome 1

Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect

Carnitine palmitoyltransferase 2 deficiency

Carnitine palmitoyltransferase I deficiency

Carnitine-acylcarnitine translocase deficiency

CHILD syndrome

Chitotriosidase deficiency

Chondrodysplasia punctata 2 - CDPX2 - Conradi-Hunermann-Happle syndrome

CK syndrome

D-bifunctional protein deficiency - DBPD

Desmosterolosis

Dihydropyrimidinase Deficiency

Dihydropyrimidine dehydrogenase deficiency

Dopa responsive dystonia

Ethylmalonic encephalopathy

Galactokinase deficiency

Galactosemia

Glutaric acidemia type IIA

Glutaric acidemia type IIB

Glutaric acidemia type IIC

Glutaric aciduria type 1 - Glutaric acidemia type 1 - Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease type 0 - GSD 0

Glycogen storage disease X - Phosphoglycerate mutase deficiency muscle specific

Hereditary fructose intolerance

Holocarboxylase synthetase deficiency

HPRT-related gout - Hypoxanthine-guanine phosphoribosyl transferase deficiency

Hyperlysinemia

Hypothyroidism

Isovaleric acidemia - Isovaleryl-CoA dehydrogenase deficiency

Lathosterolosis

Lesch-Nyhan syndrome

Lipodystrophy

Lysosomal storage disorders

Malignant hyperphenylalaninemia - GTP cyclohydrolase I deficiency

Medium-chain acyl-Coenzyme A dehydrogenase deficiency

Methylmalonyl-CoA epimerase deficiency - Methylmalonic aciduria III

Mevalonate kinase deficiency

Mevalonic aciduria

Mitochondrial DNA depletion syndrome 9 - SUCLG1 deficiency

Mitochondrial trifunctional protein deficiency

Monocarboxylate transporter member 1 (MCT1) deficiency

Multiple acyl-CoA dehydrogenase deficiency

Niemann Pick disease type A

Niemann Pick disease type B

Niemann Pick disease type C1

Niemann Pick disease type C2

Peroxisome biogenesis disorder 10A

Peroxisome biogenesis disorder 11A

Peroxisome biogenesis disorder 12A

Peroxisome biogenesis disorder 13A

Peroxisome biogenesis disorder 14B

Peroxisome biogenesis disorder 1A

Peroxisome biogenesis disorder 3A

Peroxisome biogenesis disorder 4A

Peroxisome biogenesis disorder 5A

Peroxisome biogenesis disorder 6A

Peroxisome biogenesis disorder 7A

Peroxisome biogenesis disorder 8A

Peroxisome biogenesis disorder 9B - Refsum disease

Phosphoribosyl pyrophosphate synthetase 1 superactivity

Phytanoyl-CoA 2-hydroxylase deficiency - Refsum disease

Primary carnitine deficiency

Primary hyperoxaluria type 1

Primary hyperoxaluria type II