Tyrosinemia
ICD-10 Code
E70.21
Tyrosinemia
Definition
An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.
Also identified as
- DOID 9275 per MONDO
- ICD10CM E70.21 per MONDO
- ICD9 270.2 per MONDO
- MESH D020176 per MONDO
- NCIT C98640 per MONDO
- SCTID 190694001 per MONDO
- UMLS C0268486 per MONDO
Drugs indicated
| Drug | Relation | Source |
|---|---|---|
| Ascorbic Acid | may treat | MEDRT · Public domain (U.S. Government work) |