Figures
- Fig. 1—
Fatty acid β-oxidation pathway. CPT: carnitine palmitoyltransferase. #: reactions of β-oxidation are catalysed by acyl-CoA dehydrogenases specific for different chain lengths, including very long-chain, long-chain, medium-chain and short-chain acyl-CoA dehydrogenase.
Tables
- Table 1—
Clinical manifestation and classification of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Phenotype Onset Symptoms and signs Severity Frequency % Genotype Cardiomyopathic Neonatal or early infancy Cardiomyopathy, pericardial effusion, hepatic dysfunction, mildly elevated serum ammonia, lactate and creatine kinase levels Severe, usually fatal without treatment 47 Two null mutations with no residual VLCAD enzyme activity Hepatic Late infancy or childhood Recurrent hypoketotic hypoglycaemia, hepatic dysfunction Intermediate, may be life threatening if not diagnosed and treated 33 ↓ Myopathic Adolescence to adulthood Isolated skeletal muscle involvement with episodic muscle weakness, myalgia and rhabdomyolysis triggered by exercise or fasting Mild 20 Two missense mutations or single amino acid deletions with residual enzyme activity Arrow represents the shift from two null mutations through to two missense mutations.
Vol 28 Issue 2
Table of Contents
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure
