Rare Disease Library

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency type A

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Acatalasemia

Catalase deficiency

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Pyruvate kinase deficiency of erythrocytes

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hypoplasminogenemia

Plasminogen deficiency type 1

Isolated hyperchlorhidrosis

Carbonic anhydrase XII deficiency

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Mitochondrial pyruvate carrier deficiency

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Multiple carboxylase deficiency

MCD

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency type C

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

Pyruvate dehydrogenase deficiency

PDH · PDHC

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Pyruvate dehydrogenase E1-beta deficiency

PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Pyruvate dehydrogenase E2 deficiency

Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency