Abstract
Hepatic porphyrias, disorders of heme synthesis, are rarely diagnosed in childhood. Two of three sons, ages 15 and 17 years, of a woman with longstanding neuromuscular disabilities eventually recognized to be associated with high urinary and fecal coproporphyrin (copro-P) exhibited similar biochemical findings. One son, DT, shows the typical porphyrin excretion pattern, whereas WT has only coproporphyrinuria. The mother took oral contraceptives over 10 years. How hormonal, nutritional and pharmacological factors contribute to the onset and clinical severity of the enzymatic defects in the porphyrias is not known. HC is rarely recorded (∼ 30 reported cases); to our knowledge the youngest was 10 years old. Thus, the incidence of latent carriers at risk is unknown.
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