Long chain 3-Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
Incidence
More than 20 pts. reported. AR disease.
Clinical Characteristics
Mean age of onset is 12 months. Presentation is usually hypoketotic hypoglycemic encephalopathy with severe hepatic involvement. FTT in some. developmental delay, non-specific gastrointestinal problems. Most prominent features recurrent metabolic crisis, cardiomyopathy and skeletal muscle involvement. Recurrent myoglobinuria in few patients. pigmentary retinopathy, peripheral neuropathy. Organic acids in urine are characterized by med-long chain 3-hydroxydicarboxylic acids. Low plasma carnitine levels with long chain acylcarnitines increased. Increased lactic acid and ammonia.
Precipitants
unknown.
Provocation Tests
no
Diagnostic Procedures
EB-F. GC/MS in urine. Tandem MS/MS in blood.