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An infant presents with liver failure, coagulopathy, and a cabbage-like odor. Succinylacetone is elevated in urine.
AR; FAH (fumarylacetoacetate hydrolase)
- Acute form: Liver failure in infancy
- Chronic form: Cirrhosis, hepatocellular carcinoma, renal tubular dysfunction, rickets
- Succinylacetone (pathognomonic)
- On RUSP
- Newborn screening: succinylacetone is the primary marker (more specific than tyrosine, which can be elevated in transient/benign causes)
- Elevated succinylacetone in blood and urine is essentially pathognomonic; plasma amino acids show elevated tyrosine and methionine
- Confirmatory: FAH molecular testing (alpha-fetoprotein is typically markedly elevated and tracks HCC risk)
- Nitisinone (NTBC) + tyrosine/phenylalanine-restricted diet, liver transplant
"Ty-'rotten'-sinemia": the rotten/cabbage-like odor is characteristic. Contrast with roses (ie the opposite of pleasant).
"FAAAST Tyres": fumarylacetoacetate (FAA) and succinylacetone (SA) are the key urine biomarkers. Also "Fumes from the Tyres."
Flip the T to get an "L" for Liver cancer: hepatocellular carcinoma (HCC) is a major long-term risk. T2 RTA: "Two-rosinemia causes Type 2 Renal Tubular Acidosis" leading to rickets.