Diseases of children (pediatrics)

Vitamin B12 malabsorption: causes, symptoms, diagnosis, treatment

Symptoms of vitamin B12 malabsorption develop from the first months of a child's life. Weakness, pallor, delayed physical development, diarrhea are noted. Neurological disorders are noted 6-30 months after the onset of the first symptoms: mental retardation, neuropathy, myelopathy.

Congenital folic acid absorption disorder: causes, symptoms, diagnosis, treatment

Congenital malabsorption of folic acid is a rare disease inherited in an autosomal recessive manner. Not only is folic acid transport impaired in the intestine, but the microelement's penetration into the cerebrospinal fluid is also impeded.

Enteropathic acrodermatitis (Danbolt-Clossa disease)

Enteropathic acrodermatitis is a disease associated with impaired absorption of zinc, inherited in an autosomal recessive manner. As a result of the defect in the proximal small intestine, the formation of more than 200 enzymes is disrupted.

Menkes' disease: causes, symptoms, diagnosis, treatment

The group of diseases associated with deficiency of copper transport channels includes classic Menkes disease (kinky or steel hair disease), a mild variant of Menkes disease, occipital horn syndrome (X-linked lax skin, Ehlers-Danlos syndrome, type IX).

Disorders of lipoprotein B synthesis: causes, symptoms, diagnosis, treatment

Lipoprotein B is necessary for the formation of chylomicrons, low-density and very low-density lipoproteins - the transport form of lipids when entering the lymph from the enterocyte.

Glucose-galactose malabsorption: causes, symptoms, diagnosis, treatment

Glucose-galactose malabsorption is an autosomal recessive disorder associated with a defect in the glucose-galactose transport protein. Mutations are possible in chromosome 22 of the gene encoding the protein. In this disorder, monosaccharide absorption is impaired in the intestine, causing osmotic diarrhea that quickly leads to dehydration. Glucose reabsorption in the renal tubules may be impaired. Fructose absorption is not impaired.

Duodenase, enteropeptidase (enterokinase) deficiency

Congenital enterokinase deficiency has been described, as well as transient enzyme deficiency in extremely premature infants. As a result of enterokinase deficiency, the conversion of trypsinogen to trypsin is disrupted, which results in protein breakdown in the small intestine. In duodenal pathology, duodenase deficiency is also possible, leading to peptidase deficiency.