Tag: Inborn errors of metabolism

  • When to suspect an inherited metabolic disease

    When to suspect an inherited metabolic disease

    Here are seven cardinal clues to the presence of an inherited metabolic disease (“inborn error of metabolism”): Normal pregnancy and birth, but the infant begins to deteriorate after an asymptomatic interval (usually after the first 24 hours of life) Symptoms are precipitated or exacerbated by changes in metabolic state or dietary habits: feeding, starvation, dietary changes, or exertion.…