THE EYE AND THE SKIN IN NON ENDOCRINE METABOLIC DISEASES.

A. URRETS-ZAVALÍA, JULIO; ESPOSITO E; MONTI R; RUIZ LAZCANO, A; SERRA HM; GRZYBOWSKI A

CLINICS IN DERMATOLOGY

ELSEVIER SCIENCE INC

Lugar: Amsterdam; Año: 2016

0738-081X

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