Rare Disease Library

Pyruvate dehydrogenase E3-binding protein deficiency

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

Complement component 3 deficiency

C3 deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency

PDH · PDHC

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome