tyrosinemia type I

tyrosinemia type I

Metabolic disease A rare AR condition due to fumarylacetoacetate hydrolase Clinical Progressive liver dysfunction, cirrhosis, and hepatocellular carcinoma of childhood onset, renal tubular damage, acute porphyria-like neurologic crises Diagnosis ↑ Succinylacetone in prenatal testing, allele-specific oligonucleotide hybridization Management Liver transplant, NTBC– may help 'clear' toxic metabolites
References in periodicals archive ?
Clinically, tyrosinemia Type I may be classified based on the age at the onset of symptoms, which broadly correlates with disease severity.
IMPAIRED SOCIAL BEHAVIOR IN MICE WITH TYROSINEMIA TYPE I IS ASSOCIATED WITH INCREASED MYELINATION OF THE CEREBRAL CORTEX.
Because of ALAD inhibition, lead poisoning bears biochemical and clinical resemblance to ALAD porphyria, a rare form of porphyria, as well as tyrosinemia type I, another secondary cause of porphyria (Table 2) (10).
A case report of a very rare association of Tyrosinemia Type I and pancreatitis mimicking neurologic crisis of Tyrosinemia Type I.
Through QA services and technical consultation, methods for detecting asymptomatic newborns with tyrosinemia type I should continue to improve.
[2] Nonstandard abbreviations: NBS, newborn screening; AFP, [alpha]-fetoprotein; TYR1, tyrosinemia type I; SUAC, succinylacetone; NTBC, 2-(2-nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione.
ALTERED WHEEL RUNNING AND EXPLORATORY ACTIVITY IN A MOUSE MODEL OF TYROSINEMIA TYPE I. GORDON G.
According to a medical report by Dr Siham Al Sinani, Consultant, Paediatric Gastroenterologist and Hepatologist, at the SQU Hospital, Zeid has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
Zaid has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
A medical report of SQU Hospital doctors says the child has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
Hereditary tyrosinemia Type I (HTI) (OMIM 276700) is a rare inborn error of the tyrosine metabolism due to a deficiency of the enzyme fumarylacetoacetate (FAA) hydrolase in the tyrosine catabolic pathway (Figure 1) (1).
Tyrosinemia type I treated by NTBC: How does AFP predict liver cancer?