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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.
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 ...
This is a shortened version of the fourth chapter of the ICD-9: Diseases of the Blood and Blood-forming Organs. It covers ICD codes 280 to 289. The full chapter can be found on pages 167 to 175 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
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]
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 ...
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.
Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/, [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]