Rare Disease Library

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hyperprolinemia type 1

Proline oxidase deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Pseudo-Zellweger syndrome

Thiolase deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trehalase deficiency

Isolated trehalose intolerance

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Xanthinuria type I

XDH deficiency · XO deficiency