Which one of the following lysosomal storage disorder is associated with mental retardation?
Question Category:
Correct Answer:
All of the above
Description:
(D) All of the above# Metachromatic leukodystrophy (MLD, or Arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. It involves sulfatide accumulation.> Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, arid adult.> Children with the juvenile form of MLD (onset between 3-10 years of age) usually begin with impaired school performance, mental deterioration, and dementia and then develop symptoms similar to the late infantile form but with slower progression.> Age of death is variable, but normally within 10 to 15 years of symptom onset although some juveniles can live for several decades or longer after onset.> Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.> In its most common variant, known as infantile Tay-Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four.> Fabry disease (also known as Fabry's disease, Anderson.> Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms.Full body or localized pain to the extremities (known as acroparesthesia) or Gl tract is common in patients with Fabry disease.Kidney complications are a common and serious effect of the disease; renal insufficiency and renal failure may worsen throughout life.> Cardiac complications occur when glycolipids build up in different heart cells; heart related effects worsen with age and may lead to increased risk of heart disease.> Hypertension (high blood pressure) and cardiomyopathy are commonly observed.mental retardation is rare presentation
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