Junction: Hepatology

DNA variants

Case Report: Novel LIPA Variant With Preserved Enzyme Activity Discovered

A novel variant of uncertain significance in the LIPA gene was found in 2 pairs of siblings presenting with clinical and biochemical findings suggestive of lysosomal acid lipase deficiency (LAL-D). However, since the patients had residual levels of lysosomal acid lipase (LAL) activity, a definite diagnosis of LAL-D could not be established. “When confronted with…

Infant in crib

FDA Approves Use of Maralixibat in Patients With ALGS Starting at 3 Months of Age

The US Food and Drug Administration (FDA) has approved maralixibat (Livmarli®) for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) aged 3 months or older, Mirum Pharmaceuticals announced. The medication was previously approved for the treatment of patients aged 1 year or older. The reduction in age is based on positive safety…

blood tranfusion

Rapid Clinical Deterioration Occurs in Patient With LAL-D After ERT Interruption

A team from the Universidade Federal de Sao Paulo in Brazil reported the case of a patient with lysosomal acid lipase deficiency (LAL-D) who experienced severe malabsorption after interrupting enzyme replacement therapy (ERT). “This case serves as an alert that when ERT is interrupted, there is a rapid clinical deterioration,” the team wrote in an…

Wilson Disease

New Nomogram Could Improve Efficiency of Wilson Disease Diagnosis

Researchers from China developed a new nomogram that could predict the risk of Wilson disease before the detection of serum ceruloplasmin or urinary copper levels. The new nomogram greatly increases screening efficiency for patients with abnormal liver function. There is currently no model that can predict Wilson disease. To improve the accuracy of the diagnosis…

pregnant woman

Successful Pregnancy Is Possible With Careful Management in Women With Wilson Disease

Wilson disease (WD) can increase the risk of miscarriage, premature birth, and perinatal mortality, but careful monitoring and management by medical professionals can improve quality of life and the chances of a successful pregnancy, according to a case series published in Medicine. In the case series, 3 of the 4 pregnancies in women with WD…

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