Pathophysiology: The genetic mutation of SLC39A4 on 8q24.3 appears to be the cause.
AE can only be accurately diagnosed after attempts to remove zinc supplementation have failed. Therefore, patients with AE must remain on zinc supplementation for life. Differentiating AE from acquired zinc deficiencies can be difficult because both conditions present in the same manner. Some studies have shown that low zinc levels in the mother's milk may produce an acquired zinc deficiency in full-term, breastfed infants. Zimmerman et al has proposed that some acquired zinc deficiencies may be due to a defect in mammary zinc secretion. These studies tend to dispute the claim that human breast milk has a protective effect against zinc deficiency. Acquired zinc deficiency may also occur in premature infants, whether or not maternal zinc levels are low or normal, because of the infants' greater bodily demand or lower bodily stores of zinc.
Frequency:
- In the US: The frequency is unknown.
- Internationally: An estimated 1 in 500,000 people in Denmark are affected.
Mortality/Morbidity: AE is lethal, usually within the first few years of life, if left untreated. However, Graves et al reported an untreated adult survivor.
Race: No racial predilection exists.
Sex: No sexual preference exists.
Treatment
Medical Care: Treatment of AE involves greater than 1-2 mg/kg of oral zinc supplementation per day for life.
Diet: No special diet is necessary as long as zinc supplementation is continued.
Medication
Zinc dietary supplementation of 1 mg/kg/d for life is essential. Secondary bacterial and/or candidal infections need to be addressed as necessary.
Drug Category: Mineral supplements -- These agents are used to reduce morbidity and to prevent complications.
| Drug Name | Zinc gluconate (Verazinc, Zinca-Pak, Orazinc) -- Cofactor for more than 70 types of enzymes. Plays a role in many metabolic processes. One 10-mg tab contains 1.4 mg of elemental zinc. |
|---|---|
| Adult Dose | 1 mg/kg/d PO for life |
| Pediatric Dose | 0.5-1 mg elemental zinc/kg PO qd, divided 1-3 times/d |
| Contraindications | Documented hypersensitivity |
| Interactions | May reduce effect of penicillamine, tetracycline, and quinolones; concomitant administration of copper or iron with zinc may decrease their gastrointestinal absorption |
| Pregnancy | C - Safety for use during pregnancy has not been established. |
| Precautions | Caution in renal impairment; very high dosages can result in sideroblastic anemia and microcytic anemia, secondary to zinc-induced copper deficiency (latter can be associated with neurologic defects |
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