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Folate deficiency, also known as vitamin B 9 deficiency, is a low level of folate and derivatives in the body. [1] This may result in megaloblastic anemia in which red blood cells become abnormally large, and folate deficiency anemia is the term given for this medical condition. [3] Signs of folate deficiency are often subtle. [4]
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.
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 ...
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]
The DSM-IV criteria for diagnosis of ADHD is 3–4 times more likely to diagnose ADHD than is the ICD-10 criteria. [212] ADHD is alternately classified as neurodevelopmental disorder [213] or a disruptive behaviour disorder along with ODD, CD, and antisocial personality disorder. [214] A diagnosis does not imply a neurological disorder. [185]
Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 gene. Patients with this disease may have hemolytic uremic syndrome , macrocytosis , epilepsy, hearing loss, retinopathy, mild mental retardation, lymphocytopenia (involving all subsets) and low T-cell receptor excision ...
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 ...