Correlation of metabolic myopathy symptoms and signs with specific biochemical defects

Static symptoms and signs

Acid maltase deficiency

Branching enzyme deficiency

Debranching enzyme deficiency

Carnitine transport defect

LCAD, VLCAD deficiencies

Trifunctional enzyme deficiency

Mitochondrial disorders

Dynamic symptoms and signs

Phosphorylase b kinase deficiency

Myophosphorylase (PPL) deficiency

Phosphofructokinase (PFK) deficiency

Phosphoglycerate kinase (PGK) deficiency

Lactate dehydrogenase (LDH) deficiency

Carnitine palmitoyltransferase II (CPT II) deficiency

Fatty acid oxidation/mitochondrial defects

Static and dynamic symptoms and signs

Myophosphorylase deficiency

PFK, PPL b kinase deficiencies (plus fixed weakness)

Debranching enzyme deficiency (plus dynamic symptoms)

LCAD, VLCAD, SCHAD deficiencies

Trifunctional enzyme deficiency

Multiple mitochondrial DNA deletions

LCAD: long-chain acyl-CoA dehydrogenase; VLCAD: very long-chain acyl-CoA dehydrogenase; SCHAD: short-chain 3-hydroxyacyl-CoA dehydrogenase.

Graphic 59733 Version 3.0