6.2

Endocrine metabolic disorders

Endocrine metabolic disorders highlight the how metabolic and hormonal systems are interconnected. This category includes conditions affecting insulin metabolism, often overlapping with fatty acid oxidation disorders, as well as disorders involving steroid hormones derived from sterol lipids.

6.2.a

Disorders of insulin metabolism

ATP-sensitive potassium channel regulatory subunit deficiency (Familial hyperinsulinemic hypoglycemia type…
6.2.b

Disorders of steroid metabolism

21-hydroxylase deficiency (Congenital adrenal hyperplasia due to 21-hydroxylase deficiency) 11-beta-hydroxylase…

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