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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase , an enzyme responsible for the metabolism of excess phenylalanine.
Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of the entire or partial absence of the enzyme phenylalanine hydroxylase. [3]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
A 2015 systematic review and meta-analysis found that children with a family history of autoimmune diseases were at a greater risk of autism compared to children without such a history. [ 107 ] When an underlying maternal autoimmune disease is present, antibodies circulating to the fetus could contribute to the development of autism spectrum ...
Classic autism, also known as childhood autism, autistic disorder, or Kanner's syndrome, is a formerly diagnosed neurodevelopmental disorder first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted, repetitive behaviors, activities, and interests.
ASD-related deficits in nonverbal and verbal social skills can result in impediments in personal, family, social, educational, and occupational situations. This disorder tends to have a strong correlation with genetics along with other factors. More research is identifying ways in which epigenetics is linked to autism.
Proposed alternatives to the current disorder-focused spectrum model deconstruct autism into at least two separate phenomena: (1) a non-pathological spectrum of behavioral traits in the population, [65] [66] and (2) the neuropathological burden of rare genetic mutations and environmental risk factors potentially leading to neurodevelopmental ...
About 10–15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome, [6] a category referred to as syndromic autism. Euler diagram showing overlapping clinical phenotypes in genes associated with monogenic forms of autism spectrum disorder (ASD), dystonia, epilepsy and ...