A patient with primary or secondary carnitine deficiency may present with a systemic disorder that may include an encephalopathy and/or liver disease.
The episode may be triggered by fasting, a viral illness, physical exertion or critical illness.
Clinical findings:
(1) encephalopathy
(2) hepatomegaly with accumulation of neutral lipids within hepatocytes
(3) abdominal pain and/or diarrhea
Laboratory findings:
(1) elevated liver function tests
(2) hypoglycemia
(3) abnormal ketones (primary carnitine deficiency tends to be hypoketotic while secondary carnitine deficiency may show ketoacidosis)
(4) elevated serum ammonia
Carnitine replacement is important for patient recovery.
