Typically the biochemical profile is hypoketotic hypoglycaemia; the patient being unable to make ketones despite being hypoglycaemic. There are also derrangements in liver function and other blood indices.
There is a characteristic pattern of dicarboxylic acids in the urine.
Diagnosis is made by measuring enzyme activity in fibroblast culture (from skin biopsy). In 90% of patients there is the same G985 mutation on chromosome one.
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