Key Points Rare autosomal recessive disorder due to fumarylacetoacetate hydrolase (FAH) deficiency (Hereditary Tyrosinemia Type I). Accumulation of toxic metabolites…
Key Points Inherited deficiency of galactose-1-phosphate uridyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and galactitol. Manifests in the neonatal…
Key Points Autosomal recessive disorder of copper metabolism leading to toxic copper accumulation. Presents with hepatic, neurological, and psychiatric symptoms,…
Key Points Acute, potentially fatal encephalopathy with hepatic steatosis in children, often following viral infection. Strong association with aspirin use…
