Rare Disease Library

Systemic primary carnitine deficiency

CDSP · CUD

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Disorder of carnitine cycle and carnitine transport

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency