Rare Disease Library

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Systemic primary carnitine deficiency

CDSP · CUD