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A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.
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A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.
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