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KMID : 0918520120120020099
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Journal of the Korean Society of Inherited Metabolic Disease
2012 Volume.12 No. 2 p.99 ~ p.103
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A Case with Tyrosinemia Type I Detected by Neonatal Screening Test
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Sohn Young-Bae
Lee Hae-Sang
Lee Jang-Hoon
Hwang Jin-Soon
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Abstract
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Tyrosinemia type I is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation. Clinical symptoms include progressive liver damage with liver failure, coagulopathy, hypophosphataemic rickets, renal tubular dysfunction and a high risk of hepatocellular carcinoma. If left untreated, the affected infants may die from liver failure within the first year of life. PharmacoloIcal therapy with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has offered an effective therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. As prognosis of tyrosinemia type I is improving with early diagnosis and early treatments, it meets the criteria for a condition that would benefit from newborn screening. We report a case of tyrosinemia type I diagnosed by newborn screening and successive biochemical analysis of plasma and urine, treated by dietary restriction and NTBC.
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KEYWORD
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Tyrosinemia type I, Newborn screening, NTBC
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