Niemann-Pick Disease: Understanding Symptoms & Treatment
Niemann-Pick Disease is a lipid-storage disorder marked by the excessive accumulation of lipids, including waxes, oils, and cholesterol, in various organs such as the...
Hereditary Hemochromatosis: Understanding Its Impact & Care
Hereditary Hemochromatosis is an inherited iron overload disorder characterized by excessive iron absorption due to hepcidin deficiency. There are four different types of hereditary...
Hypophosphatasia: Understanding A Rare Genetic Disorder
What is Hypophosphatasia?
Hypophosphatasia is a rare inborn metabolic disorder that affects the mineralization of bone and teeth.
Phosphate is one of the essential minerals necessary...
Biotinidase Deficiency: Understanding the Genetic Disorder
Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...
Cachexia: Understanding the Wasting Syndrome & Its Impact
Cachexia, also known as wasting syndrome, is a complicated metabolic syndrome involving muscle mass loss along with anorexia, insulin resistance, and increased protein turnover....
Alkaptonuria: Causes, Symptoms & Treatment Options
What is Alkaptonuria?
Alkaptonuria, also known as black urine disease or black bone disease, is a rare hereditary “autosomal recessive” condition stemming from an inborn...
