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Preconceptual Health
Published in Michelle Tollefson, Nancy Eriksen, Neha Pathak, Improving Women's Health Across the Lifespan, 2021
Nancy L. Eriksen, Kristi R. VanWinden, John McHugh
Maternal phenylketonuria (PKU), otherwise known as phenylalanine hydroxylase deficiency, is associated with a dose-related embryopathy when maternal phenylalanine levels are elevated in early pregnancy. Fetal effects include growth restriction, microcephaly, facial dysmorphology, cardiac malformations, and intellectual disability in a pattern similar to that of fetal alcohol syndrome.66,67 These risks are eliminated if phenylalanine levels are normalized prior to pregnancy through maternal dietary changes. Women with PKU should begin dietary interventions with a goal of normalizing phenylalanine levels for at least 3 months prior to pregnancy and throughout gestation.68
Nutrition Therapy of Inborn Errors of Metabolism
Published in Fima Lifshitz, Childhood Nutrition, 2020
Kimberlee Michals-Matalon, Reuben Matalon
In infancy an age-appropriate medical food is supplemented with either breast milk or commercial formula that supplies essential phenylalanine. The medical food should provide 80% to 90% of the dietary protein. The infant should be given protein intake that is similar to usual protein consumption of infants taking commercial formulas as shown in Table 2. If the blood phenylalanine level is about 20 mg/dl, then start with 45 mg/kg phenylalanine (see Table 2). There is a great deal of variation in required energy intake (Table 2). Appropriate weight gain will be the best indicator of adequate calorie intake. Poor weight gain may result in tissue catabolism with an associated rise in plasma phenylalanine. The blood phenylalanine needs to be monitored twice weekly and dietary phenylalanine increased or decreased to maintain the blood phenylalanine level in the range of 2–6 mg/dl. As the infant becomes older, part of the breast milk or infant formula is replaced by phenylalanine in baby cereal, fruits, and vegetables. The strained meats are too high in phenylalanine and are not added to the diet. For a toddler, the diet includes measured amounts of fruits, vegetables, and starchy foods along with the age-appropriate medical food.
Phenylketonuria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
It is important to remember that this challenge was developed for use with infants, and the predominant experience is at the three-month level. A dose of 180 mg/kg per day of phenylalanine for three days would be a sizeable challenge for an older child or adult with PKU. In fact, symptomatic hypoglycemia and hyperinsulinemia have been reported in a 15-year-old patient so challenged [49]. Infants in whom this test did not yield levels higher than 1200 μmol/L [42] were classified as variants. Currently, we consider those with levels over 600 μmol/L as having classic PKU (see Table 15.1).
Ameliorative role of dietary activated carbon against ochratoxin-A induced oxidative damage, suppressed performance and toxicological effects
Published in Toxin Reviews, 2022
Sheraz Ahmed Bhatti, Muhammad Zargham Khan, Muhammad Kashif Saleemi, Zahoor Ul Hassan, Ahrar Khan
In current experimental study, dietary OTA at all levels induced a dose dependent negative impact on body weight, FCR and internal organs relative weights. The gross morphological and histopathological alterations in internal organs were also increased in dose related manner. OTA intoxication at all levels significantly (p < 0.05) altered the serum proteins, enzymes and TAC of the birds. The injurious effects of OTA concentration used in the present study were consistent with earlier reports of Koynarski et al. (2007), Elaroussi et al. (2006) and Verma et al. (2004). The reduced weight gain, as observed in the present study, might be due to decreased feed intake and poor FCR (Elaroussi et al. 2006). Kubena et al. (1990) suggested that the decrease weight gain and FCR could be due to the impaired protein synthesis because of competitive inhibitory effect of phenylalanine moiety of OTA; prevent the attachment of amino acid phenylalanine to Phenylalanine-tRNA synthetase. OTA intoxication induce early hepatotoxicity (Qi et al. 2015) and the resultant hypoproteinemia and decrease concentration of somatotropic hormones resulted in reduced body weight and feed consumption (Elaroussi et al. 2006). The increased relative weight of internal organs (liver and kidney) might be due to the damage caused by OTA intoxication as both are the major organs involved in OTA biotransformation and removal from the body (Fuchs et al. 1988, Qi et al. 2015).
Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report
Published in Fetal and Pediatric Pathology, 2021
Boyan Song, Zhijun Ma, Wei Liu, Lihong Lu, Yongjian Jian, Lu Yu, Zhihui Wan, Xiaofei Yue, Yuanyuan Kong
The patient is a female infant, delivered vaginally after 40 weeks of pregnancy, with a birth weight of 3430 g and a body length of 51 cm. The neonatal screening showed that the patient’s blood phenylalanine level was 221.6 µmol/L (reference range: 30–117 µmol/L). At day 21 after birth, she was admitted to our hospital. The phenylalanine level in blood was 859.6 µmol/L. No manifestations, such as skin whitening and yellowing, poor appetite, sucking weakness, dysphagia, decreased responsiveness, weakness, somnolence or convulsions were detected. No specific odor was found in urine. Moreover, jaundice, rash, and bleeding spots were not observed on the skin. No unusual facies and no yellow hair were observed. The anterior fontanel was flat and soft, and the tension was not high. Because getting results of urine pterin spectrum analysis and dihydropteridine reductase (DHPR) analysis for further diagnosis need several days, a low phenylalanine diet was administered.
Sheila—Unlocking the Treatment for PKU
Published in Journal of the History of the Neurosciences, 2021
Fortuitously, at the time Sheila presented for evaluation due to delayed development, German physician Horst Bickel (1918–2000) was pursuing amino acid chromatography at the hospital as part of his Ph.D. work. After a preliminary positive ferric chloride test of Sheila’s urine, she was admitted for further investigation. Certainly, Sheila’s developmental delay, rough skin, and eczema—along with the musty, “mouse-like” smell of her urine—were all consistent with PKU. Bickel excitedly explained Sheila’s diagnosis of PKU to her mother, Mary Jones (1917–1981), and proudly showed Mary the “beautiful paper chromatogram” he had obtained to firmly establish the diagnosis; however, as Bickel later recounted, Mary was unimpressed by what she derided as “fancy investigations.” Instead, she pestered Bickel in front of the laboratory door on a daily basis, demanding to know when treatment for her daughter was going to be initiated and leaving Bickel “no chance to rest on the strength of a fine diagnosis.” The problem was that there was not then any treatment available. Mary’s laudable advocacy, however, stimulated some out-of-the-box thinking by Bickel and his colleagues John Gerrard (1916–2013) and Evelyn Hickmans (1882–1972): Would it be possible to remove phenylalanine from the diet and, if so, would it be helpful? This was not clear, because phenylalanine is pervasive in foods other than pure carbohydrates and fats. Moreover, if the neurologic damage had already occurred, it might not be possible to produce evident improvement.