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
Although KP may manifest in persons of any age, it usually appears within the first decade of life and is more common in young children. In most cases, the condition gradually improves before age 30, but it can persist longer. See also
Ichthyosis linearis circumflexa

References
External links

The American Academy of Dermatology
The American Osteopathic College of Dermatology  - Article on keratosis pilaris