Folic acid deficiency symptoms

Clinically, deficiency (deficiency) of folic acid in children is manifested by increasing lethargy, anorexia, low body weight gain, a tendency to gastrointestinal disorders (chronic diarrhea is possible). There may be glossitis, an increase in infectious diseases, in far-reaching cases - thrombocytopenic bleeding. Neurological disorders, in contrast to the deficiency of vitamin B _12, no. However, it is noted that in the presence of psychoneurological disorders (epilepsy, schizophrenia), folate deficiency aggravates their course.

Congenital malabsorption of folate

It is rare (13 cases are described); is inherited autosomally-recessively; characterized by selective malabsorption of folates. In the first months of life, megaloblastic anemia develops, diarrhea, stomatitis, glossitis, lag in development, progressive neurological disorders are also noted. A very low level of folic acid in the blood serum, erythrocytes and cerebrospinal fluid is determined laboratory; urinary excretion of forminoglutamate and orotic acid may be increased. Treatment: folic acid inside at a dose of 5-40 mg per day, if necessary, the dose can be increased to 100 mg per day or more; it is also possible to administer folic acid intramuscularly, for the prevention of recurrence, folic acid is administered intramuscularly at 15 mg every 3 to 4 weeks.

Deficiency of methyltetrahydrofolate reductase activity

It is inherited autosomally-recessively; in the literature there are descriptions of more than 30 cases of the disease. The first clinical manifestations of the disease are noted either in the first months of life, or much later - in 16 years and older. Characteristic features: a delay in psychomotor development, microcephaly, at an older age - a violation of gait and motor skills, strokes, psychiatric manifestations. Megaloblastic anemia is absent. Deficiency of the enzyme leads to an increase in plasma homocysteine and homocysteinuria and a decrease in plasma levels of methionine. Vascular changes, cerebral veins and arteries thrombosis, cerebral veins and arteries enlargement, cerebral venous expansion, hydrocephalus, microgyria, perivascular changes, demyelination, macrophage infiltration, gliosis, astrocytosis, degenerative changes of the spinal cord have been revealed by results of pathomorphological studies performed in patients with severe methyltetrahydrofolate reductase activity deficiency. The cause of demyelination can also be a methionine deficiency. For diagnosis, the enzyme activity in liver cells, leukocytes and fibroblast culture is determined.

Prognosis: unfavorable for early onset of the disease. Treatment: the disease is resistant to therapy; prescribe folic acid, methyl tetrahydrofolate, methionine, pyridoxine, cobalamin, betaine. Prenatal diagnosis of enzyme deficiency is possible (amniocentesis, chorion biopsy). After the diagnosis is established, betaine, which helps to lower the level of homocysteine and increase the level of methionine.

Thiamine-dependent megaloblastic anemia

It occurs very rarely; is inherited autosomally-recessively. Patients with megaloblastic anemia, may have sideroblastic anemia with ring-shaped sideroblasts. There are leukopenia, thrombocytopenia. In addition to megaloblastic anemia, patients have diabetes mellitus, atrophy of the optic nerves, deafness. The content of cobalamin and folate in the blood serum is normal, there are no signs of thiamine deficiency.

The pathogenesis of the disease is not clear. It is believed that the disease may be due to either a violation of thiamine transport, or a deficiency in thiamine-dependent pyrophosphokinase enzyme activity.

Treatment: the use of vitamin B ₁₂, folic acid is ineffective. Assign thiamin at 100 mg per day orally daily until the normalization of hematologic parameters is complete, then maintenance therapy with thiamine is administered at a dose of 25 mg per day. With the withdrawal of the drug after a few months there is a relapse of the disease.

[1], [2], [3], [4], [5], [6]