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Incidence

It is a rare disease; up to now more than 20 SCOT-deficient patients were reported. Autosomal recessive.

Clinical Characteristics

This disorder is characterized clinically by intermittent ketoacidosis with, however, no clinical symptoms between these episodes. Ketoacidotic episodes are usually severe and the first episode develops in the neonatal period or early childhood (6-20mo). Some patients die of a sequela of the ketoacidotic attack. It is a typical ketolytic defect, in which extrahepatic tissues cannot use the ketone bodies produced by the liver. There is no characteristic organic acid profile and acylcarnitine profile. SCOT-deficient patients do not always have persistent ketosis. However, when it is present, persistent ketosis is an indicator of SCOT deficiency. It is important to consider this disorder in patients with ketotic/ketoacidotic episodes. Physicians should differentiate SCOT deficiency from physiological ketosis which is very common in childhood. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks. Some authors suggest that instead of being very rare, this condition may be underdiagnosed.

Precipitants

Probable fasting or intercurrent infections. Triggering factors are fasting, infections, stress, or prolonged physical exertion.

Provocation Tests

None. It is important to consider this disorder in patients with ketotic/ketoacidotic episodes. Physicians should differentiate SCOT deficiency from physiological ketosis which is very common in childhood.

Diagnostic Procedures

EB. Succinyl-CoA:3-ketoacid CoA-transferase deficiency. Ketonuria. There is no characteristic organic acid profile and acylcarnitine profile. SCOT-deficient patients do not always have persistent ketosis. It is important to consider this disorder in patients with ketotic/ketoacidotic episodes. Physicians should differentiate SCOT deficiency from physiological ketosis which is very common in childhood.