It seems to be effective in reducing circulating protoporphyrin levels.Bone marrow transplantation, liver transplantation, acetylcysteine, extracorporeal albumin dialysis, parenteral iron and transfusion of erythrocytes are alternative plans for treatment of EEP. Over-the-counter drug
Some over-the-counter drugs may help:

Proferrin is an oral heme supplement which may work similarly to Hematin. B. subtilis (a gram-positive soil probiotic) produces ferrochelatase, which may be able to convert some of the protoporphyrin in the intestine into heme. Beta carotene, though a recent meta analysis of carotene treatment has called its effectiveness into question. Epidemiology
Case reports suggest that EPP is prevalent globally. The prevalence has been estimated somewhere between 1 in 75,000 and 1 in 200,000 however it has been noted that the prevalence of EPP may be increasing due to a better understanding of the disease and improved diagnosis. An estimated 5,000–10,000 individuals worldwide have EPP. EPP is considered the most common form of porphyria in children. The prevalence in Sweden has been published as 1:180,000. History
Erythropoietic protoporphyria was first described in 1953 by Kosenow and Treibs and completed in 1960 by Magnus et al. at the St Johns Institute of Dermatology in London. See also
Xeroderma pigmentosum
Porphyria cutanea tarda
List of cutaneous conditions

References
External links
Erythropoietic protoporphyria at NLM Genetics Home Reference
Pathophysiology
Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene makes an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. Little is known about its exact function, however. Mutations in the ETHE1 gene lead to the production of a defective version of the enzyme or prevents the enzyme from being made. A lack of the ETHE1 enzyme impairs the ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy. Ethylmalonic encephalopathy is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are usually not affected by the disorder. Diagnosis
Treatment
References
External links

Ethylmalonic encephalopathy at NLM Genetics Home Reference