Rare Disease Library

Systemic primary carnitine deficiency

CDSP · CUD

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Congenital intestinal transport defect

Cystinosis

Protein defect of cystin transport

Disorder of carnitine cycle and carnitine transport

Metabolic myopathy due to lactate transporter defect

Erythrocyte lactate transporter defect

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency