Rare Disease Library

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

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Acatalasemia

Catalase deficiency

Aminoacylase deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Biotinidase deficiency

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

Dopamine beta-hydroxylase deficiency

DBH deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Multiple carboxylase deficiency

MCD

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

Pseudo-Zellweger syndrome

Thiolase deficiency

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, infantile type

Pyruvate carboxylase deficiency type A

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Systemic primary carnitine deficiency

CDSP · CUD

Trehalase deficiency

Isolated trehalose intolerance

Xanthinuria type I

XDH deficiency · XO deficiency