Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in cognitive learning, motor skills disability, and...
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...
Biotinidase Deficiency is an inherited autosomal recessive disorder in which the enzyme biotinidase is deficient. The enzyme helps to recycle the vitamin biotin, and...
What is Zellweger Syndrome?
Zellweger syndrome is a rare genetic disorder that disrupts cellular function and usually appears soon after birth. Named after Dr. Hans...
Lennox Gastaut Syndrome is an epileptic disorder that occurs in infants and children. This condition is also called childhood encephalopathy. Infants or children with...