Tyrosinemia type I: a clinico-laboratory case report.

Abstract

Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib. Classical tyrosinemia type I arises from a deficiency of fumarylacetoacetate hydrolase while the variant tyrosinemia type Ib results from a deficiency of maleylacetoacetate isomerase.

• Authors: Deepali Karnik, Niranjan Thomas, C E Eapen, A K Jana, A Oommen
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 71 Issue 10 Pg. 929-32 (Oct 2004) ISSN: 0019-5456 [Print] India
• PMID: 15531838 (Publication Type: Case Reports, Journal Article)

Chemical References

• alpha-Fetoproteins
• Tyrosine
• Methionine

Topics

• Female
• Humans
• Infant, Newborn
• Methionine (blood)
• Renal Aminoacidurias (diagnosis)
• Tyrosine (blood)
• Tyrosinemias (diagnosis)
• alpha-Fetoproteins (analysis)