Hereditary tyrosinemia type1 (HT1) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase. Untreated tyrosinemia type I usually presents either with severe liver involvement or later with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Early diagnosis and prompt treatment is essential for an improved prognosis. Combined treatment with nitisinone (NBTC) and a low-tyrosine diet has resulted in a greater than 90% survival rate.
We are describing the presentation, management and follow up of 6 kuwaiti patients having (HT1). The index case was the product of consanguineous marriage male who presented at five months of age with bleeding due to hepatic failure was found to have rickets, was given a trial of rectal NBTC but died at age of 7 months. All following siblings were screened for (HT1). Three children (two males and one female) out of four were affected. The other index case was the product of consanguineous marriage, a female died at age of 6 months with hepatic failure. Her father was the youngest brother of the first index case. Latter on, these parents had another affected female who was diagnosed on birth based on family history. All the patients were kept on analogue X phen tyr meth free milk beside breast feeding. Once diagnosis was confirmed they were started on NTBC 1 mg/kg/day twice daily. They were monitored regularly by complete blood count, liver and renal functions, blood amino acids, urine succinylacetone, ultrasound, CT abdomen, echocardiography and slit-lamp examination of the eyes.