Tyrosinemia type I--diagnostic issues and prenatal diagnosis.
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.
Bijarnia
Sunita
S
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Puri
Ratna D
RD
Ruel
Jean
J
Gray
George F
GF
Jenkinson
Linda
L
Verma
Ishwar C
IC
D003241:Consanguinity; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020176:Tyrosinemias / Q000175:diagnosis* / Q000235:genetics