Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.
JIMD Rep
; 65(4): 255-261, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38974614
ABSTRACT
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life. It is caused by the deficiency of the enzyme fumarylacetoacetate hydrolase which is involved in the terminal step of the catabolic pathway of tyrosine. Diagnosis is made through clinical suspicion supported by biochemical abnormalities that result from accumulation of upstream metabolites. Detection of succinylacetone (SA) in dried blood spot or urine remains pathognomonic, however it is not always detectable. Here we describe three cases of HT1 presenting with atypical biochemistry, where SA was not always detectable, highlighting the importance of an additional disease biomarker, 4-oxo-6-hydroxyheptanoate.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
JIMD Rep
Year:
2024
Document type:
Article
Country of publication:
United States