Mucolipidosis is a group of inherited metabolic disorders that affect the bodys ability to carry out the normal turnover of various materials within cells.When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis. ML II and III
The other two types are closely related. Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins. Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escape outside the cell. Genetics
The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. At the same time, each child also faces a one in two chance of inheriting only one copy of the defective gene. People who have only one defective gene are known as carriers. These individuals do not develop the disease but they can pass the defective gene on to their own children.
Some researchers suggest there may be a common etiology underlying hallucinations in BPD and those in other conditions like psychotic and affective disorders. Disability
Many people with BPD are able to work if they find appropriate jobs and their condition is not too severe. People with BPD may be found to have a disability in the workplace if the condition is severe enough that the behaviors of sabotaging relationships, engaging in risky behaviors or intense anger prevent the person from functioning in their job role. Causes
As is the case with other mental disorders, the causes of BPD are complex and not fully agreed upon. Evidence suggests that BPD and post-traumatic stress disorder (PTSD) may be related in some way. Most researchers agree that a history of childhood trauma can be a contributing factor, but less attention has historically been paid to investigating the causal roles played by congenital brain abnormalities, genetics, neurobiological factors, and environmental factors other than trauma. Genetics
The heritability of BPD is estimated to be between 37% to 69%. That is, 37% to 69% of the variability in liability underlying BPD in the population can be explained by genetic differences. Twin studies may overestimate the effect of genes on variability in personality disorders due to the complicating factor of a shared family environment. Even so, the researchers of one study concluded that personality disorders "seem to be more strongly influenced by genetic effects than almost any Axis I disorder [e.g., depression, eating disorders], and more than most broad personality dimensions".