Publications by authors named "S A Rudnick"
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.
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- Porphyria cutanea tarda (PCT) is a skin condition primarily caused by defects in the liver enzyme uroporphyrinogen decarboxylase (UROD), with type 1 PCT being the more common form associated with risk factors like alcohol use, liver disease, and hormonal therapy.
- A case study describes an elderly man with PCT who has risk factors including heavy alcohol and tobacco use, along with a novel genetic mutation affecting UROD function.
- The identified mutation, c.224 G>C; p. Arg 75 Pro, was shown to significantly reduce UROD enzyme activity by 50%, suggesting it is a pathogenic factor contributing to the patient's condition.
Background And Aims: Severity of fibrosis is the driver of liver-related outcomes in metabolic dysfunction-associated steatotic liver disease (MASLD), and non-invasive testing such as fibrosis-4 (FIB-4) score is utilized for risk stratification. We aimed to determine if primary care patients at risk for MASLD and advanced fibrosis were evaluated with subsequent testing. A secondary aim was to determine if at-risk patients with normal aminotransferases had advanced fibrosis.
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- Erythropoietic protoporphyria (EPP) is a genetic disorder caused by low levels of ferrochelatase, affecting heme production, while X-linked protoporphyria (XLP) results from overactive δ-aminolevulinic acid synthase 2 (ALAS2), leading to similar symptoms.
- Both conditions cause a buildup of protoporphyrin IX, resulting in extreme sensitivity to light and possible severe liver issues in some patients.
- New treatments like dersimelagon are being developed to improve management options for EPP and XLP beyond traditional methods of sun avoidance.