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…
Researchers report that Wilson disease can result in significant cardiac abnormalities, requiring close follow-up.
Low serum creatinine levels and an age of less than 35 years appear to be independent risk factors associated with Wilson disease (WD) and could help distinguish patients with WD and normal ceruloplasmin levels from patients with liver disease due to other causes, according to a recently published study in the International Journal of Clinical…
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…
Recently my daughter who was diagnosed with ALGS at the age of 3 underwent her first baseline brain scan.
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…
Quality of life is greatly affected in patients with Wilson disease. Providing psychological support to their parents is equally as important.
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…
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…
Liver disease is one of the major contributors to healthcare utilization in the world. In the United States alone, chronic liver disease and cirrhosis account for around 45,000 deaths annually; globally, the figure rises to around 2 million. Liver disease can be caused by a number of factors, for example: hepatitis C (9%), hepatitis B…
