AGLIKOGENOZ

From Big Medical Encyclopedia

AGLIKOGENOZ (a Greek negative prefix and - + a glycogen + - osis) — the hereditary disease connected with lack of the enzyme responsible for synthesis of a glycogen — уридин-дифосфат-глюкозо-гликогентрансферазы (glikogensintetaza). The mode of inheritance is not studied yet. And. it is described in 1963 by Lewis (G. M of Lewis) and then in 1964

J. Spencer-Peet at several children of both sexes of the same family at two of whom mental retardation was observed.

At And. in a liver completely there is no glycogen, full deficit of a glikogensintetaza at normal activity of other enzymes participating in exchange of a glycogen is observed.

The clinical picture is characterized by frequent sharp gipoglikemiya (see), the content of glucose in blood falls to 7 — 12 mg of %. Hypoglycemic spasms are most frequent in the mornings; they can be warned only frequent feeding of the child at night.

At suspicion on And. (frequent and heavy a hypoglycemia) the biopsy of a liver (a research of a glycogen and enzymes) is necessary. The differential diagnosis is carried out with gipoglikemiya of other etiology.

Symptomatic treatment. Forecast adverse.

Bibliography: Badalyan L. About. Tabolin V. A. and Veltishchev Yu. E. Hereditary diseases at children, page 114, M., 1971; Horst A. Molecular pathology, the lane with polsk. M, 1964; Endocrine and genetic diseases of childhood, ed. by L. 1. Gardner, Philadelphia — L., 1969; L e-wis G. M, Spencer-PeetJ. Stewart K. M. Infantile hypoglycemia due to inherited deficiency of glycogen synthetase in liver, Arch. Dis. Childh., v. 38, p. 40, 1963, bibliogr.; Parr J., Terce T. M. a. Lamer J. Symptomatic hypoglycemia, visceral fatty metamorphosis and aglycogcnosis in an infant lacking glycogen synthetase and phosphory-lase, Pediatrics, v. 35, p. 770, 1965.

Yu. A. Knyazev.

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