The term galactosemia refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia. How to Write Footnotes. There are two types of footnotes: comments and citations. Comments allow you to make notes on your writing, such as a short explanation or an. Entertainment Television, LLC. A Division of NBCUniversal with news, shows, photos, and videos.
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Classic Galactosemia and Clinical Variant Galactosemia - Gene. Reviews. This categorization is based on: residual erythrocyte GALT enzyme activity; the levels of galactose metabolites (e. This categorization allows for proper counseling of the parents of an infant with galactosemia, especially regarding the so- called diet- independent complications. Classic Galactosemia. Within days of ingesting breast milk or lactose- containing formulas, infants with classic galactosemia develop life- threatening complications including feeding problems, failure to thrive, hypoglycemia, hepatocellular damage, bleeding diathesis, and jaundice (see Table 2).
If classic galactosemia is not treated, sepsis with Escherichia coli, shock, and death may occur . Infants who survive the neonatal period and continue to ingest lactose may develop severe brain damage . Frequency of Specific Findings in Symptomatic Neonates with Classic Galactosemia. View in own window. Finding. Percent of Affected Neonates w/Finding. Additional Details. Hepatocellular damage.
Jaundice (7. 4%)Hepatomegaly (4. Abnormal liver function tests (1. Coagulation disorders (9%)Ascites (4%)Food intolerance.
Vomiting (4. 7%)Diarrhea (1. Poor feeding (2. 3%)Failure to thrive. Lethargy. 16%Seizures. Sepsis. 10%Escherichia coli (2. Klebsiella (3)Enterobacter (2)Staphylococcus (1)Beta- streptococcus (1)Streptococcus faecalis (1)If a lactose- free diet is provided during the first three to ten days of life, the signs resolve quickly and prognosis for prevention of liver failure, Escherichia coli sepsis, and neonatal death is good. Failure to implement effective newborn screening may have catastrophic consequences such as liver failure .
If treatment is delayed, complications such as poor growth retardation and progressive liver disease are likely. Rare affected individuals may develop vitreous hemorrhages that may produce blindness . Even individuals who have not been sick in the newborn period and who were begun on a lactose- free diet from birth (e. These problems may manifest as early as age one to two years, and in almost all instances, no findings that would have predicted eventual brain and ovarian dysfunction were present in early infancy. A minority of individuals may exhibit documented neurologic abnormalities including tremor (postural or intentional), cerebellar ataxia, and dystonia.
No findings early in the disease course are good predictors of these long- term complications. Overall, the quality of life is reduced in adults with classic galactosemia, and more so when compared to individuals with phenylketonuria (PKU) . Formal outcome analysis for POI and for verbal dyspraxia found the 1. CO2 breath test (available on a research basis only) to be the most sensitive and specific prognostic parameter . To summarize, the data on long- term outcome indicate that complications involving the nervous system and ovary do not correlate with any of the well- known biochemical variables (e. Table 3) . Of 1. 77 individuals age six years or older with no obvious medical causes for developmental delay other than galactosemia, 4. The mean IQ scores of the individuals as a group declined slightly (4- 7 points) with increasing age.
Studies of Dutch individuals at various ages using a quality of life questionnaire indicated subnormal cognitive outcomes . The speech problems resolved in only 2. A more formal analysis found speech problems in 4. Speech defects are heterogeneous, involving both central defects and motor abnormalities, and evolve with time .
Among individuals older than age five years, 1. Severe ataxia was observed in two teenagers.
Adults manifested tremors, dysarthria, cerebellar ataxia and dystonia . Of 4. 7 girls and women, 8. POI). The mean age at menarche was 1. Eight out of 3. 4 women older than age 1.
Most women developed oligomenorrhea and secondary amenorrhea within a few years of menarche. Only five out of 1. Two, who gave birth at ages 1. Guerrero et al . However, the literature has few reports of males with classic galactosemia who have fathered a child . There have been no data to support structural abnormalities in the male reproductive tract that would lead to infertility; preliminary data suggest an increased prevalence of cryptorchidism and low semen volume . In many individuals, growth was severely delayed during childhood and early adolescence; when puberty was delayed and growth continued through the late teens, final adult heights were within the normal range.
Decreased height over mean parental height was related to low insulin- like growth factor- I (IGF- I) . Nearly half the cataracts were described as . Dietary treatment had begun at a mean age of 7. However, one of the eight individuals who required cataract surgery was an infant who had been treated from birth. Relationship between treatment and outcome.
No significant associations were found between treatment and outcome except for a greater incidence of developmental delay among individuals who were not treated until after age two months. However, IQ scores were not highly correlated with the age at which treatment began. The effect of early treatment on outcome was also studied in 2. The older sibs were diagnosed and treated after clinical symptoms occurred or newborn screening results had been reported, whereas the younger sibs were treated within two days of birth. Although the younger sibs were treated early and only one developed neonatal symptoms, the differences in IQ scores among the sibs were not statistically significant, and the speech and ovarian function of the younger sibs were no better than those of their older sibs. Restriction of milk in the mother's diet during pregnancy was reported for 2.
The long- term outcome of these 2. No significant differences could be observed in the rate of complications between the individuals with residual enzyme activity and those with no measurable enzyme activity, except that individuals with some enzyme activity tended to be taller for age. Individuals with/without neurologic complications.
No differences were observed in treatment or biochemical factors between the 5. Relationships of complications.
Developmental delay and low IQ scores were associated with speech problems, motor problems, and delayed growth, but not with abnormal ovarian function. Gender differences. Females had lower mean IQ scores than males after age ten years (p < 0. However, the association of problems with intellectual development, speech, and motor function could also indicate a specific neurologic abnormality in some cases of galactosemia.