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Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process.
It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. [1] Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells.
Intrauterine growth restriction (IUGR), or fetal growth restriction, is the poor growth of a fetus while in the womb during pregnancy. IUGR is defined by clinical features of malnutrition and evidence of reduced growth regardless of an infant's birth weight percentile. [5] The causes of IUGR are broad and may involve maternal, fetal, or ...
Biopsy shows either abnormal accumulation or deficit of glycogen. Causes. Genetic. A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Beyond the immediate risks during pregnancy, the obesity of the mother tends to create a predisposition for the baby to have the inclination to develop conditions like heart disease and diabetes. [14] During pregnancy, the rate at which nutrition is absorbed and conveyed to the fetus affects its physiology and metabolic regularity.
Triosephosphate isomerase deficiency is a rare autosomal recessive [2] metabolic disorder which was initially described in 1965. [3]It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early childhood. [4]
Pyridoxine, metoclopramide [4] Frequency. ~1% of pregnant women [5] Hyperemesis gravidarum (HG) is a pregnancy complication that is characterized by severe nausea, vomiting, weight loss, and possibly dehydration. [1] Feeling faint may also occur. [2] It is considered more severe than morning sickness. [2]
Frequency. ~6% of pregnancies [ 3 ] Gestational diabetes is a condition in which a woman without diabetes develops high blood sugar levels during pregnancy. [ 2 ] Gestational diabetes generally results in few symptoms; [ 2 ] however, obesity increases the rate of pre-eclampsia, cesarean sections, and embryo macrosomia, as well as gestational ...