Folic Acid

A 10-year-old boy diagnosed with Fabry disease was also found to have a rare blood disorder called congenital dyserythropoietic anemia (CDA) in a case researchers said was highly unusual.In CDA, anemia, that is, a shortage of red blood cells that transport oxygen in the bloodstream, results in symptoms like fatigue, weakness, and pale skin.“CDA … and [Fabry disease] co-occurring in the same patient is a very rare medical finding [that] has never been reported,” the researchers wrote. “This case … underscores the need for further investigation into potential genetic and [disease-causing] links between these seemingly disparate conditions.”The case was described in “The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient,” in Clinical Case Reports.The boy was started on treatment with agalsidase alfa, an enzyme replacement therapy for Fabry, but no follow-up data regarding his treatment outcomes was provided.Fabry disease is caused by mutations in the GLA gene, which provides instructions for producing the alpha-galactosidase A (alpha-Gal A) enzyme. The mutations typically affect the activity of alpha-Gal A and lead to fat molecules — mainly globotriaosylceramide (Gb3) and lyso-Gb3 —  accumulating in several tissues and organs. Symptoms include pain, gastrointestinal issues, and skin rash, and may involve the kidneys, heart, and nervous system.The boy was admitted to a pediatric clinic having had a pale appearance and recurrent infections in the previous months. A physical exam showed his vital signs were stable and he had normal growth, but an ultrasound revealed an enlarged spleen.Laboratory work indicated low hemoglobin, the protein that carries oxygen in red blood cells, and high levels of total bilirubin, although direct bilirubin was in the normal range. Total bilirubin includes indirect bilirubin, the one that results from the breakdown of red blood cells, and direct bilirubin, an indicator of liver function.The boy had ferritin levels that were just above the lower normal range. Ferritin is a protein that stores iron needed to make healthy red blood cells. The boy was treated with folic acid and iron supplements, which didn’t significantly increase his hemoglobin or reduce the levels of total bilirubin.Whole genome sequencing, which allows for the sequencing of a person’s complete genetic information, revealed genetic mutations consistent with Fabry disease, which, together with lower than normal alpha-GalA activity confirmed the disease diagnosis.The boy also had a mutation that led to a CDA type 2 diagnosis. This CDA type is the most common one and is marked by anemia, and liver and spleen enlargement. He was referred to a pediatric neurologist and started treatment with agalsidase alfa every two weeks. Agalsidase alfa is an enzyme replacement therapy, meaning it provides a working version of the alpha-Gal A enzyme to ease Fabry symptoms. The treatment is approved as Replagal in Europe and other countries, but not in the U.S.No information about the result of treatment was provided by the researchers.“The combined form of both entities of disorders isn’t widely known. Since both CDA and [Fabry disease] are rare genetic disorders, the likelihood of an individual having both conditions simultaneously is exceedingly low,” the researchers wrote. “To the best of our knowledge, it is the first case of [Fabry disease] and CDA type II, coexisting in a 10-year-old boy.”

NORTH READING, Mass.--( BUSINESS WIRE )--Aphios Corporation announced today that it has been granted Japanese Patent No. 7,520,838 for novel compositions to treat folic acid deficiency and morning sickness. The dosage forms have an effective amount of a folic acid, gingerols and shogaols to suppress nausea, relieve gastric distress and promote hematopoiesis. Pregnancy related nausea and vomiting (PRNV) is the most common medical condition during pregnancy. PRNV affects up to 70% of women during their first trimester, and many in the second and third trimester. The most serious form of PRNV is called Hyperemesis gravidarum (HG) that is reported in up to 10% of pregnant women. PRNV and HG affects women's quality of life and exerts a large economic impact on patients, caregivers and society. There are only a few medications approved by the FDA to treat and manage PRNV and HG. Folic acid deficiency can also have a significant impact on the health and welfare of newborns, parents, caregivers and society. Folic acid is necessary and critical to fetal development during pregnancy since it promotes DNA synthesis and cell division, affecting hematopoietic cells. In addition to folic acid, a number of medications that include folic acid have been used in the past to treat this deficiency during pregnancy. These supplements are also associated with nausea and upset stomach. There is thus a need to develop improved formulations which do not cause gastric distress and nausea. According to Dr. Trevor P. Castor, inventor of the patent, “These novel compositions impact high unmet needs to manage pregnancy related nausea and vomiting without synthetic drugs, while improving the health of the fetus and mother with folic acid supplements, managing any resulting gastric distress and improving hemostasis that is accomplished by both gingerols/shogaols and folic acid supplements.” About Aphios Corporation: Aphios is an emerging growth, green biotechnology company using earth-friendly supercritical fluids and nanotechnologies to develop enabling technology platforms. Based on these platforms and inspired by nature, we are developing enhanced therapeutics to maintain health, improve quality-of-life and treat chronic diseases including certain cancers and Zindol ® for chemotherapy induced nausea and vomiting (CINV), infectious diseases such as HIV/AIDS, influenza and COVID-19, and CNS disorders such as Alzheimer’s disease and opioid addiction in an environmentally sustainable manner.