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5,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene, which encodes the enzyme 5,10-Methenyltetrahydrofolate synthetase. [2] The disease starts at birth or in early infancy and presents with microcephaly, short stature, and developmental delay.
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
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] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a long period of time. [9] [3] Fewer than 20 people with the FOLR1 defect have been described in the medical ...
ADHD affects 8 to 11% of children in the school going age. [citation needed] ADHD is characterised by significant levels of hyperactivity, inattentiveness, and impulsiveness. There are three subtypes of ADHD: predominantly inattentive, predominantly hyperactive, and combined (which presents as both hyperactive and inattentive subtypes). [27]
Attention deficit hyperactivity disorder predominantly inattentive (ADHD-PI or ADHD-I), [3] is one of the three presentations of attention deficit hyperactivity disorder (ADHD). [4] In 1987–1994, there were no subtypes or presentations and thus it was not distinguished from hyperactive ADHD in the Diagnostic and Statistical Manual (DSM-III-R).
Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. [5] [6] Many birth defects are believed to involve multiple factors. [6] Birth defects may be visible at birth or diagnosed by screening tests. [10]
Folate (Vitamin B 9) deficiency: Symptoms may include feeling tired, heart palpitations, shortness of breath, feeling faint, open sores on the tongue, loss of appetite, changes in the color of the skin or hair, irritability, and behavioral changes. [32] In adults, anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate ...