Affected infants are symptomatic at birth with hypoketotic hypoglycemia, seizures, cardiomyopathy/arrythmias, liver failure and death occurring within the first few weeks of life, (2) severe infantile (hepatocardiomuscular) form, with symptomatology appearing from 6 to 24 months of life in a similar presentation but less severe than LNF form and (3) myopathic form, which is the least severe type and they become symptomatic in infancy to adulthood with myalgia and weakness following exercise or fasting ( Lethal neonatal form of CPT II remains a challenge in early diagnosis and treatment
Overexpression of SOX9 causes increased skin thickening.[ref] Co-morbid autoimmune conditions: With a propensity for excessive inflammatory response, it is not surprising that individuals with HS are also more likely to have an autoimmune condition
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