Hurler syndrome is a lysosomal storage condition that occurs due to mutations in the IDUA gene on chromosome 4, leading to a deficiency or absence of the enzyme alpha-L-iduronidase....
What is Acute Hepatic Porohria?
Acute hepatic porphyria (AHP) is a group of metabolic disorders characterized by the buildup of specific molecules known as porphyrins...
What is Pompe Disease?
Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...
Tetany is a medical condition caused by an involuntary muscle spasm or contractions, often resulting from electrolyte imbalance and deficient calcium levels in the...