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Methylenetetrahydrofolate reductase deficiency. Other names. MTHFR deficiency. Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1]
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Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [6] [7] [8] Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant promoter hypermethylation of this gene is associated with male infertility and recurrent spontaneous abortion. [9] [10]
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3][4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
Epigenetics of anxiety and stress–related disorders is the field studying the relationship between epigenetic modifications of genes and anxiety and stress-related disorders, including mental health disorders such as generalized anxiety disorder (GAD), post-traumatic stress disorder, obsessive-compulsive disorder (OCD), and more.
Mixed anxiety–depressive disorder (MADD) is a diagnostic category that defines patients who have both anxiety and depressive symptoms of limited and equal intensity accompanied by at least some autonomic nervous system features. Autonomic features are involuntary physical symptoms usually caused by an overactive nervous system, such as panic ...
Cerebral folate deficiency. Cerebral folate deficiency is a condition in which concentrations of 5-methyltetrahydrofolate are low in the brain as measured in the cerebral spinal fluid despite being normal in the blood. [3] Symptoms typically appear at about 5 to 24 months of age. [3][2] Without treatment there may be poor muscle tone, trouble ...
Specialty. Neurology. Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head trauma.