The eye and the skin in nonendocrine metabolic disorders

详细信息    查看全文

• 作者：Julio A. Urrets-Zavalí ; a ; MD ; PhD^a ; ^{julioaurrets@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Evangelina Espó ; sito ; MD^a ; ^{gely_esposito@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Iliana Garay ; MD^b ; ^{ilianastella@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Rodolfo Monti ; MD^a ; ^{fitomonti@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Alejandro Ruiz-Lascano ; MD ; PhD^b ; ^{aruizlascano@hospitalprivadosa.com.ar" class="auth_mail" title="E-mail the corresponding author} ; Leandro Correa ; MD^a ; ^{leandrocorrea50@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Horacio M. Serra ; PhD^c ; ¹ ; ^{hserra@fcq.unc.edu.ar" class="auth_mail" title="E-mail the corresponding author} ; Andrzej Grzybowski ; MD ; PhD MBA^d ; ^e ; ¹ ; ^{ae.grzybowski@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 刊名：Clinics in Dermatology
• 出版年：2016
• 出版时间：March-April 2016
• 年：2016
• 卷：34
• 期：2
• 页码：166-182
• 全文大小：1622 K

文摘

As metabolism is controlled by the input of genes and the environment, metabolic disorders result from some disturbance in the interaction between genes and environmental factors. Many metabolic disorders consist in congenital enzyme deficiencies, also known as “inborn errors of metabolism,” that may be disabling or cause severe illness and death and are predominantly inherited in an autosomal recessive fashion. The deposit in cells and tissues of storage substances from errors in metabolic processes may produce a wide variety of disorders affecting different organs and functions, with different degrees of severity, and often present around the time of birth or early childhood. Distinctive ocular and skin manifestations accompany many metabolic diseases and may provide clues for their diagnosis and evolution.