Galactosemia

This is a rare autosomal recessive disorder of newborns. Importantly, if diagnosed early, it is effectively treatable. Galactose in the normal metabolic pathway is converted to glucose in four steps, each step being catalyzed by a specific enzyme. In galactosemia, the conversion of exogenous galactose to glucose is blocked in step two due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). As a result, galactose-1-phosphate, a metabolite from step one, accumulates in erythrocytes, galactose accumulates in tissues and blood, and galactosyl is excreted in urine. The disease is diagnosed by measuring GALT enzyme content in erythrocytes and galactosyl in urine.

The disease presents soon after birth with prolonged jaundice, vomiting, diarrhea, hepatomegaly, and anemia. Untreated patients develop ocular, neurologic, visceral, and metabolic disorders; hepatomegaly progressing to nodular cirrhosis; kidney dysfunction; hypoglycemic episodes; and lenticular cataract. Mental retardation, seizures, extrapyramidal and cerebellar symptoms, and microcephaly are chief neurologic features. The dietary elimination of galactose (lactose-containing products) prevents the development of complications, provided it is initiated a few days after birth and continued throughout life.

The cerebral pathology is not specific; some changes relate to the toxic effect of galactose whereas others are complications of multiple metabolic derangements, including liver cirrhosis. Grossly, the brain is small, the cerebral and cerebellar cortex is thin, and the hemispheric white matter is diminished and firm. The histol ogy is characterized by: variable neuronal losses in the cerebral and cerebellar cortex and subcortical gray structures, patchy myelin losses and astrogliosis in the white matter, and the presence of Alzheimer type 2 glial cells in gray structures. Basophilic mineral deposits may be found in basal ganglia (Fig. 9.15).

Getting Back Into Shape After The Pregnancy

Getting Back Into Shape After The Pregnancy

Once your pregnancy is over and done with, your baby is happily in your arms, and youre headed back home from the hospital, youll begin to realize that things have only just begun. Over the next few days, weeks, and months, youre going to increasingly notice that your entire life has changed in more ways than you could ever imagine.

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