Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.
Mol Genet Metab
; 136(2): 118-124, 2022 06.
Article
em En
| MEDLINE
| ID: mdl-35422340
ABSTRACT
Cancer, caused by multiple cumulative pathogenic variants in tumor suppressor genes and proto-oncogenes, is a leading cause of mortality worldwide. The uncontrolled and rapid cell growth of the tumors requires a reprogramming of the complex cellular metabolic network to favor anabolism. Adequate management and treatment of certain inherited metabolic diseases might prevent the development of certain neoplasias, such as hepatocellular carcinoma in tyrosinemia type 1 or hepatocellular adenomas in glycogen storage disorder type 1a. We reviewed and updated the list of known metabolic etiologies associated with various types of benign and malignant neoplasias, finding 64 relevant inborn errors of metabolism. This is the eighth article of the series attempting to create a comprehensive list of clinical and metabolic differential diagnosis by system involvement.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio
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Carcinoma Hepatocelular
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Tirosinemias
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Neoplasias Hepáticas
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article