Disorders of fatty acid oxidation
Disorders of fatty acid metabolism
may be due to deficiency in the acyl dehydrogenase enzyme complex, deficiency
in carnitine, or a defect in the carnitine transport process.
•
Clinical
presentation is with acute encephalopathy with recurrent vomiting, lethargy,
drowsiness, and seizures. Hypoglycaemia is usually observed, as well as
hepatomegaly and hyperammonaemia.
•
Episodes
of acute encephalopathy are precipitated by periods of prolonged fasting or by
intercurrent illness associated with poor feeding.
· Presentation is usually in the
first 2yrs of life.
•
Diagnosis
depends on a high index of suspicion. A positive family history or a history of
previous acute metabolic crisis during trivial intercurrent illness may be
present.
•
Diagnosis
of a specific disorder of fatty acid metabolism is established by demonstrating
characteristic abnormalities in urinary organic acid excretion and in plasma
acyl carnitine profiles. Abnormalities may not be present when child is well.
Molecular genetic testing is also available for some disorders.
•
Treatment
successfully managed by avoidance of prolonged fasting, high carbohydrate diet,
and carnitine supplements. During intercurrent illness, administration of high
carbohydrate diet is required.
This is the commonest fatty acid
oxidation disorder (1/13 000 births) and is due to mutations in the MCAD gene (1p31). Clinical presentation
may vary from asymptomatic to fulminant. Newborn screening programs, uti-lizing
neonatal blood spot collection methods, are now in place in many countries for
the early detection and management of this condition.
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