Rare Disease Library

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

GM3 synthase deficiency

ST3GAL5-CDG

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG