Rare Disease Library

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Biotinidase deficiency

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

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Ketoacidosis due to monocarboxylate transporter-1 deficiency

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Multiple carboxylase deficiency

MCD

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport 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

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Sodium-dependent multivitamin transporter deficiency

Systemic primary carnitine deficiency

CDSP · CUD

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency