Tyrosinaemia type 1 (Q39991): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A tirosinemia tipo 1 é um erro inato do metabolismo dos aminoácidos, caracterizada por manifestações hepatorrenais. A forma aguda de início precoce da doença se manifesta entre 15 dias a 3 meses após o nascimento com necrose hepatocelular. A septicemia é uma complicação frequente. A disfunção tubular renal ocorre e está associada à perda de fosfato e raquitismo hipofosfatêmico. Uma forma de início tardio também foi descrita e se manifesta com raquitismo resistente a vitaminas, causado por disfunção tubular renal.
@@ description / en / description / en @@
+Tyrosinemia type 1 is an inborn error of amino acid metabolism characterised by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicaemia is a frequent complication. Renal tubular dysfunction occurs and is associated with phosphate loss and hypophosphatemic rickets. A later onset form has also been described and manifests with vitamin-resistant rickets caused by renal tubular dysfunction.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/2029519782
@@ Property / Canonical URI: https://id.who.int/icd/entity/2029519782 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:5C50.11
@@ Property / CURIE: CID11:5C50.11 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-5C50.11
@@ Property / Canary Token: dki-india-5C50.11 / 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 @@
+E70.2
@@ Property / Linked ICD 10: E70.2 / rank @@
+Normal rank

Latest revision as of 05:37, 13 August 2026

Tyrosinemia type 1 is an inborn error of amino acid metabolism characterised by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicaemia is a frequent complication. Renal tubular dysfunction occurs and is associated with phosphate loss and hypophosphatemic rickets. A later onset form has also been described and manifests with vitamin-resistant rickets caused by renal tubular dysfunction.

Language	Label	Description	Also known as
default for all languages	5C50.11
English	Tyrosinaemia type 1	Tyrosinemia type 1 is an inborn error of amino acid metabolism characterised by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicaemia is a frequent complication. Renal tubular dysfunction occurs and is associated with phosphate loss and hypophosphatemic rickets. A later onset form has also been described and manifests with vitamin-resistant rickets caused by renal tubular dysfunction.