Symptoms of galactosemia

Galactosemia, type I (GAL I) manifests in the 1-2 weeks of life, as a rule. A few days after the first reception of dairy food. The first signs are nonspecific: frequent regurgitation, poor weight gain, diarrhea. Then signs of liver damage are added: hepatomegaly or hepatosplenomegaly, hyperbilirubinemia, increased transaminase levels. Hypoalbuminemia, blood clotting disorders, ascites. Often there is hypoglycemia. Cataract, not an obligate symptom of the disease (about 30% of patients with galactosemia I do not have ophthalmic disorders), although in children not being treated. It is formed in the first month of life. Often the cause of death is the severely developing sepsis caused by E. Coli. Described kidney-tubular dysfunction up to the syndrome of toxic kidney, leading to hyperchloremic acidosis. The defeat of the liver with galactosemia I is almost fulminant, and patients die from acute liver failure in the first half of life.

Benign variants of the disease, which occur without pronounced and acute changes on the part of the liver, are also described, which is probably due to the genetic heterogeneity of galactosemia I and the influence of environmental factors. Part of patients due to severe gastroenteric disorders alone limit milk consumption; in other cases, in connection with the signs of lactase deficiency, the child can be transferred to low-lactose mixtures.

It is shown that the coefficient of mental development of patients with galactosemia is lower than that of their healthy peers (IQ = 70-80); as a rule, this difference becomes apparent at the age of 15-25. Almost half of the patients with galactosemia I have violations of speech development with manifestations of motor dysphasia (alalia). The child is difficult to organize speech movements, their coordination. Speech is slowed down, impoverished, vocabulary is meager, there are many reservations (paraphasia), permutations, perseverations. Understanding of speech does not suffer at the same time. Approximately 20% of older children observe ataxia, intentional tremor, hypotension. Some patients identify changes in MRI: cortical-subcortical atrophy, hypomyelinization, cerebellar atrophy, brainstem. At the same time, there were no strict correlations between neurologic disorders and the age of onset of treatment or the content of galactose-1-phosphate in the blood.

In 90% of the girls who are on treatment, hypergonadotropic hypogonadism (delay in sexual development, primary or secondary amenorrhea) is noted. It is believed that these endocrinological complications are associated with the toxic effect of galactose and its metabolites on the ovaries in the neonatal period.

Galactosemia, type II

The only manifestation of the disease is cataract. It is recommended that all young patients with cataracts be examined to exclude this form of the disease.

Galactosemia, type III

There are benign asymptomatic and severe neonatal form.

In severe form with extremely low enzyme activity, the disease manifests itself in the neonatal period and, according to clinical manifestations, is similar to classical galactoseemia: hepatomegaly, jaundice, feeding disorders, signs of liver damage, cataracts, sepsis. In the absence of a specific diet, death occurs in the neonatal period against a background of liver and cerebral insufficiency.

For a benign form, the normal tolerability of galactose is characteristic; it is detected in homozygous carriers due to an increase in the level of galactose-1-phosphate in neonatal screening for galactosemia. There is no need for specific treatment.

[1], [2], [3]