Niemann Pick Disease is a lipid storage disorder closely related to Alzheimer’s disease. It is a very serious condition that causes a variety of health issues, disabilities, and even death. Described below are the three types of Niemann Pick Disease: Type A, B, and C.
Type A: problems include liver enlargement and spleen enlargement from excessive cholesterol, a byproduct of the condition. Another symptom is the failure to gain weight and certain neurological problems.
Type B:
problems include retardation, lung failures, brain disorders, and blood disorders. These problems can start in newborns around 3 months old. People with type B can grow up to be adults.
Type C: problems include liver disease, trouble breathing, seizures, and n inability to move their eyes vertically. Type C consists of both Types A and B. Once the disease is diagnosed the average person has a 7 to 10 year life span.
II. Gene Related Acquisition of the Disease:
Patients likely to develop Niemann Pick Disease will have inherited it in an autosomal recessive pattern, Put simply, this means both copies of the gene in each cell have mutations. The parents of a kid with this condition each carry one copy of the mutated gene. The parents do not show any sign or symptoms of the Niemann-Pick Disease. Most often this deadly combination comes from parents who are closely related. The disorder, however, is not sex linked.
III. Diagnosis and Life Span:
Type A: often noticed when a person is a baby around 3 months of age. Many of these babies do not make it passed the age of three.
Type B: often noticed at around 6 months of age. Many of these infants can make it to be adults.
Type C: often noticed at birth or at an older age. When symptoms arise, the patient usually lives no more than 10 additional years.
IV. Early Diagnosis:
Fetus: Parents can check the fetus chromosomes for irregularities prior to birth.
Adult: Parents themselves can have a DNA test to see if they have any mutated chromosomes- this is especially important if they are closely related.
V. High Risk Candidates:
Types A and B occur in all races.
Type A disease occurs more frequently in people of Ashkenazi Jewish descent. Type B occurs higher in the Maghreb region of North Africa, Saudi Arabia and in People of Turkish descent that are all closely related. People such as these descendants should be tested so that we don’t keep having babies that can be carriers and the disease or simply refrain from having babies with close or distant relatives.
VI. Autosomal Recessive Inheritance Graph:
VI. Resources:
a) The Niemann-Pick Disease Foundation
b) http://www.youtube.com/watch?v=ME-LFneuDZk
c) Genetic Home Reference.com
e) National Niemann-Pick Disease Foundation Inc.com
f) Genetic Disorder Testing.com
