The eye and the skin in nonendocrine metabolic disorders.

Julio A Urrets-Zavalía, Evangelina Espósito, Iliana Garay, Rodolfo Monti, Alejandro Ruiz-Lascano, Leandro Correa, Horacio M Serra, Andrzej Grzybowski

Journal: Clinics in dermatology 2016;34(2):166-82

PMID: 26903184

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Abstract

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.

Address: Department of Ophthalmology, University Clinic Reina Fabiola, Catholic University of Córdoba, Oncativo 1248, Córdoba (5000), Argentina. Electronic address: [email protected].; Department of Ophthalmology, University Clinic Reina Fabiola, Catholic University of Córdoba, Oncativo 1248, Córdoba (5000), Argentina. Electronic address: [email protected].; Department of Dermatology, Hospital Privado Centro Médico de Córdoba, Naciones Unidas 346, Córdoba (5016), Argentina. Electronic address: [email protected].; Department of Ophthalmology, University Clinic Reina Fabiola, Catholic University of Córdoba, Oncativo 1248, Córdoba (5000), Argentina. Electronic address: [email protected].; Department of Dermatology, Hospital Privado Centro Médico de Córdoba, Naciones Unidas 346, Córdoba (5016), Argentina. Electronic address: [email protected].; Department of Ophthalmology, University Clinic Reina Fabiola, Catholic University of Córdoba, Oncativo 1248, Córdoba (5000), Argentina. Electronic address: [email protected].; CIBICI-CONICET, Faculty of Chemical Sciences, National University of Córdoba, Haya de la Torre esquina Medina Allende sin número, Ciudad Universitaria, Córdoba (5000), Argentina. Electronic address: [email protected].; Department of Ophthalmology, Poznań City Hospital, ul. Szwajcarska 3, 61-285 Poznań, Poland; Department of Ophthalmology, University of Warmia and Mazury, Olsztyn, Poland. Electronic address: [email protected].

DOI: 10.1016/j.clindermatol.2015.12.002

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MeSH Terms: Amino Acid Metabolism, Inborn Errors, Amyloidosis, Eye Diseases, Gout, Humans, Lesch-Nyhan Syndrome, Lipoid Proteinosis of Urbach and Wiethe, Lysosomal Storage Diseases, Metabolism, Inborn Errors, Porphyrias, Skin Diseases