Rare Disease Library

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Corticosteroid-binding globulin deficiency

Transcortin deficiency

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

G6P translocase deficiency · G6PT deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

Transaldolase deficiency

TALDO deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transient neonatal diabetes mellitus

TNDM

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

Transketolase deficiency

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