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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.
312.81 Childhood onset: At least one of the Diagnostic Criteria needs to be met for Conduct Disorder before age 10. 312.82 Adolescent onset: The absence of any criteria characteristic of Conduct Disorder before the age of 10. 312.89 Unspecified onset: The age of onset is unknown. 313.81 Oppositional Defiant Disorder
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]
Folate-deficiency anemia: D52 E53.8: 4894: Folate-deficiency anemia (also known as dietary folate-deficiency anemia) is a condition that develops when the body does not have the adequate supply of folic acid available that is needed for the production of new healthy blood cells. [13] Nutritional megaloblastic anemia: D51.1, D52.0, D53.1: 29507 ...
Attention deficit hyperactivity disorder is a neurodevelopmental disorder that occurs in early childhood. ADHD affects 8 to 11% of children in the school going age. [citation needed] ADHD is characterised by significant levels of hyperactivity
Dihydrofolate reductase deficiency (DHFR deficiency) is a rare inherited disorder of folate metabolism caused by defects in the DHFR gene. The disorder is inherited in the autosomal recessive manner and may present with megaloblastic anemia, cerebral folate deficiency and neurological symptoms of varying type and severity. The patient may have ...
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 ...