Tyrosinemia

What this deck covers

Tyrosinemia in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Tyrosinemia type I, Biliary atresia, Alagille syndrome, Acute appendicitis, Acute intermittent porphyria, Neurologic crisis of tyrosinemia type I, Vitamin D deficiency rickets, X-linked hypophosphataemia (XLH), Hypophosphataemic rickets due to tyrosinemia type I, Fumarylacetoacetate hydrolase (FAH), Tyrosine aminotransferase (TAT), Phenylalanine hydroxylase (PAH), Homogentisate oxidase, Plasma tyrosine level, Plasma phenylalanine level, Succinylacetone (SA), Serum methionine level, A normal finding for infancy, Vitamin K deficiency, Acute viral hepatitis, Tyrosinemia type II (Richner-Hanhart syndrome), Vitamin A deficiency, Herpes keratitis, Enzyme replacement therapy for FAH deficiency, Inhibition of 4-hydroxyphenylpyruvate dioxygenase (HPPD), Substrate reduction of phenylalanine via PAH inhibition.

Clinical pearls from this deck

• The diagnostic paradox is the clue: severe coagulopathy (INR 4.5) and hepatomegaly with only MILDLY elevated transaminases, plus markedly raised AFP. Synthetic function collapses out of proportion to hepatocellular enzyme leak — succinylacetone destroys hepatocytes through oxidative damage rather than classical necrosis.
• Succinylacetone inhibits delta-ALA dehydratase, blocking haem synthesis so delta-ALA accumulates — and delta-ALA is neurotoxic. The result is a genuinely porphyria-like crisis: severe poorly localised abdominal pain, peripheral neuropathy, hypertension and hypertonic posturing.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.