Medical expert of the article
New publications
Symptoms of galactosemia
Last reviewed: 06.07.2025
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Galactosemia type I (GAL I) manifests itself in the 1st-2nd week of life, usually a few days after the first intake of dairy food. The first signs are nonspecific: frequent regurgitation, poor weight gain, diarrhea. Then signs of liver damage join: hepatomegaly or hepatosplenomegaly, hyperbilirubinemia, increased transaminase levels, hypoalbuminemia, blood clotting disorders, ascites. Hypoglycemia is common. Cataract is not an obligatory symptom of the disease (about 30% of patients with galactosemia I do not have ophthalmological disorders), although in children who are not treated. it develops in the first month of life. Often the cause of death is acute sepsis caused by E. coli.Renal tubular dysfunction up to toxic kidney syndrome leading to hyperchloremic acidosis has been described. Liver damage in galactosemia I is almost fulminant in nature, and patients die from acute liver failure in the first half of life.
Benign variants of the disease are also described, occurring without pronounced and acute changes in the liver, which is probably due to the genetic heterogeneity of galactosemia I and the influence of environmental factors. Some patients, due to severe gastrointestinal disorders, independently limit their milk consumption; in other cases, due to signs of lactase deficiency, the child may be transferred to low-lactose formulas.
It has been shown that the IQ 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 years. Almost half of patients with galactosemia I have speech development disorders with manifestations of motor dysphasia (alalia). The child has difficulty organizing speech movements and coordinating them. Speech is slow, impoverished, the vocabulary is poor, it contains many slips of the tongue (paraphasia), permutations, perseverations. Understanding of speech is not affected. Approximately 20% of older children have ataxia, intention tremor, hypotonia. Some patients have changes in MRI: cortical-subcortical atrophy, hypomyelination, atrophy of the cerebellum, brainstem. At the same time, no strict correlations have been found between neurological disorders and the age of treatment onset or the content of galactose-1-phosphate in the blood.
Hypergonadotropic hypogonadism (delayed sexual development, primary or secondary amenorrhea) is observed in 90% of girls undergoing treatment. 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 rule out this form of the disease.
Galactosemia type III
A distinction is made between benign asymptomatic and severe neonatal forms.
In severe forms with extremely low enzyme activity, the disease manifests itself in the neonatal period and is similar in clinical manifestations to classical galactosemia: hepatomegaly, jaundice, feeding disorders, signs of liver damage, cataracts, sepsis. In the absence of specific diet therapy, death occurs in the neonatal period against the background of liver and cerebral failure.
The benign form is characterized by normal galactose tolerance and is detected in homozygous carriers by elevated galactose-1-phosphate levels during neonatal screening for galactosemia. No specific treatment is needed.
[