Rare Disease Library

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Developmental and speech delay due to SOX5 deficiency

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

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

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Long chain acyl-CoA dehydrogenase deficiency

LCAD

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

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD