Phenylketonuria (Q39985): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A fenilcetonúria é uma doença metabólica hereditária, caracterizada pela deficiência da fenilalanina hidroxilase, enzima necessária para a transformação da fenilalanina em tirosina. Não tratada, a fenilcetonúria leva à deficiência mental, às vezes grave, assim como à hipopigmentação . A restrição dietética de fenilalanina permite que os pacientes levem uma vida quase normal.
@@ description / en / description / en @@
+Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/444122923
@@ Property / Canonical URI: https://id.who.int/icd/entity/444122923 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C50.0
@@ Property / CURIE: CID11:5C50.0 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C50.0
@@ Property / Canary Token: dki-india-5C50.0 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+E70
@@ Property / Linked ICD 10: E70 / rank @@
+Normal rank

Latest revision as of 05:37, 13 August 2026

Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.

Language	Label	Description	Also known as
default for all languages	5C50.0
English	Phenylketonuria	Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.