Liver-specific glucose-6-phosphatase is not present in human placenta.
Type I glycogen storage disease (McKusick 23220), an inherited absence or deficiency of glucose-6-phosphatase (EC 3.1.3.9) activity in the liver, kidney and intestine, is associated with the accumulation of glycogen in those organs. Previous reports have shown that glucose-6-phosphatase exists in human placenta and that detection of a heterozygote for this disorder from placenta might be possible. Our finding of a normal glucose-6-phosphatase activity in a placenta from a patient at risk for type Ia glycogen storage disease prompted us to examine in more detail placental glucose-6-phosphatase. Unexpectedly, we found the properties of the placental enzyme differed from that in normal liver, and the placental enzyme hydrolyzed glucose-6-phosphate, mannose-6-phosphate, beta-glycerol phosphate and glucose-1-phosphate equally well. Our data suggest the enzyme deficient in type I glycogen storage disease cannot be detected in placenta.
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Related Subject Headings
- Prenatal Diagnosis
- Pregnancy
- Placenta
- Liver
- Humans
- Glycogen Storage Disease Type I
- Glucose-6-Phosphatase
- Genetics & Heredity
- Fetal Diseases
- Female
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Prenatal Diagnosis
- Pregnancy
- Placenta
- Liver
- Humans
- Glycogen Storage Disease Type I
- Glucose-6-Phosphatase
- Genetics & Heredity
- Fetal Diseases
- Female