The Nutritional Relationships of Copper David L
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The Inherited Metabolic Disorders News
The Inherited Metabolic Disorders News Summer 2011 Volume 8 Issue 2 From the Editor I hope everyone is enjoying their summer thus far! Our 8th annual Metabolic Family Day and 7th annual Low In this Issue Protein Cooking Demonstration were once again a huge success. See the section ”What’s New” on page 9 for a full report of the events, as well as pictures. ♦ From the Editor…1 As always, your suggestions and stories are welcome. Please contact me by email: [email protected] or telephone 519-685-8453 if you wish to contribute to the ♦ From Dr. Chitra Prasad…1 newsletter. I hope everyone has a safe and happy summer! ♦ Personal Stories… 2 Janice Little ♦ Featured This Issue … 4 From Dr Chitra Prasad ♦ Suzanne’s Corner… 6 Dear Friends, ♦ What’s New… 8 Hope you all are having a wonderful summer. We had a great metabolic family workshop with around 198 registrants this year. This was truly phenomenal. Thanks to all the team members and ♦ Research & Presentations … 13 the families in the planning committee for doing such a fantastic job. I was really touched when one of our young metabolic patients told her parents that she would like to attend the ♦ How to Make a Donation… 14 metabolic family workshop! Please see some of the highlights of the metabolic workshop in the newsletter for those who could not make it. The speeches by our youth (Sadiq, Leanna and Laura) ♦ Contact Information … 15 were appreciated by everyone. Big thanks to Jill Tosswill (our previous social worker) who coordinated their talks. -
Role of Trace Minerals in Animal Production
ROLE OF TRACE MINERALS IN ANIMAL PRODUCTION What Do I Need to Know About Trace Minerals for Beef and Dairy Cattle, Horses, Sheep and Goats? Connie K. Larson, Ph.D. Research Nutritionist, Zinpro Corporation Eden Praire, MN 55344 Presented at the 2005 Nutrition Conference sponsored by Department of Animal Science, UT Extension and University Professional and Personal Development The University of Tennessee. Introduction The role of trace minerals in animal production is an area of strong interest for producers, feed manufactures, veterinarians and scientists. Adequate trace mineral intake and absorption is required for a variety of metabolic functions including immune response to pathogenic challenge, reproduction and growth. Mineral supplementation strategies quickly become complex because differences in trace mineral status of all livestock and avian species is critical in order to obtain optimum production in modern animal production systems. Subclinical or marginal deficiencies may be a larger problem than acute mineral deficiency because specific clinical symptoms are not evident to allow the producer to recognize the deficiency; however, animals continue to grow and reproduce but at a reduced rate. As animal trace mineral status declines immunity and enzyme functions are compromised first, followed by a reduction in maximum growth and fertility, and finally normal growth and fertility decrease prior to evidence of clinical deficiency (Figure 1; Fraker, 1983; Wikse 1992). In order to maintain animals in adequate trace mineral status, balanced intake and absorption are necessary. Figure 1. Effect of declining trace mineral status on animal performance Mineral Status Immunity & Enzyme Function Adequate Maximum Growth/Fertility Normal Growth/Fertility Clinical Signs Subclinical Clinical Trace Mineral Function To better understand the role of trace minerals in animal production it is important to recognize that trace elements are functional components of numerous metabolic events. -
Menkes Disease in 5 Siblings
Cu(e) the balancing act: Copper homeostasis explored in 5 siblings Poster with variable clinical course 595 Sonia A Varghese MD MPH MBA and Yael Shiloh-Malawsky MD Objective Methods Case Presentation Discussion v Present a unique variation of v Review literature describing v The graph below depicts the phenotypic spectrum seen in the 5 brothers v ATP7A mutations produce a clinical spectrum phenotype and course in siblings copper transport disorders v Mom is a known carrier of ATP7A mutation v Siblings 1, 2, and 5 follow a more classic with Menkes Disease (MD) v Apply findings to our case of five v There is limited information on the siblings who were not seen at UNC Menke’s course, while siblings 3 and 4 exhibit affected siblings v The 6th sibling is the youngest and is a healthy female infant (not included here) a phenotypic variation Sibling: v This variation is suggestive of a milder form of Background Treatment birth Presentation Exam Diagnostic testing Outcomes Copper Histidine Menkes such as occipital horn syndrome with v Mutations in ATP7A: copper deficiency order D: 16mos residual copper transport function (Menkes disease) O/AD: 1 Infancy/12mos N/A N/A No Brain v Siblings 3 and 4 had improvement with copper v Mutations in ATP7B: copper overload FTT, Seizures, DD hemorrhage supplementation, however declined when off (Wilson disease) O/AD: Infancy/NA D: 13mos supplementation -suggesting residual ATP7A v The amount of residual functioning 2 N/A N/A No FTT, FTT copper transport function copper transport influences disease Meningitis -
Copper Deficiency Caused by Excessive Alcohol Consumption Shunichi Shibazaki,1 Shuhei Uchiyama,2 Katsuji Tsuda,3 Norihide Taniuchi4
Findings that shed new light on the possible pathogenesis of a disease or an adverse effect BMJ Case Reports: first published as 10.1136/bcr-2017-220921 on 26 September 2017. Downloaded from CASE REPORT Copper deficiency caused by excessive alcohol consumption Shunichi Shibazaki,1 Shuhei Uchiyama,2 Katsuji Tsuda,3 Norihide Taniuchi4 1Department of Emergency SUMMARY managed by crawling. A day before his visit to our and General Internal Medicine, Copper deficiency is a disease that causes cytopaenia hospital, his behaviour became unintelligible, and Hitachinaka General Hospital, and neuropathy and can be treated by copper he was brought to our hospital by ambulance. He Hitachinaka, Ibaraki, Japan supplementation. Long-term tube feeding, long-term had a history of hypertension and dyslipidaemia 2Department of General Internal total parenteral nutrition, intestinal resection and and took amlodipine and rosuvastatin. He has no Medicine, Tokyo Bay Urayasu history of surgery and he did not take zinc medica- Ichikawa Medical Center, ingestion of zinc are known copper deficiency risk Urayasu, Chiba, Japan factors; however, alcohol abuse is not. In this case, a tion or supplementation. 3Department of Nephrology, 71-year-old man had difficulty waking. He had a history Vital signs were the following: blood pressure Suwa Central Hospital, Chino, of drinking more than five glasses of spirits daily. He was 96/72 mm Hg, pulse 89/min, body temperature Nagano, Japan well until 3 months ago. A month before his visit to our 36.7°C, respiration rate 15/min at time of visit. 4Department of hospital, he could not eat meals but continued drinking. -
Menkes Disease Submitted By: Alice Ho, Jean Mah, Robin Casey, Penney Gaul
Neuroimaging Highlight Editors: William Hu, Mark Hudon, Richard Farb “From Sheep to Babe” – Menkes Disease Submitted by: Alice Ho, Jean Mah, Robin Casey, Penney Gaul Can. J. Neurol. Sci. 2003; 30: 358-360 A four-month-old boy presented with a new onset focal On examination, his length (66 cm) and head circumference seizure lasting 18 minutes. During the seizure, his head and eyes (43 cm) were at the 50th percentile, and his weight (6.6 kg) was were deviated to the left, and he assumed a fencing posture to the at the 75th percentile. He had short bristly pale hair, and a left with pursing of his lips. He had been unwell for one week, cherubic appearance with full cheeks. His skin was velvety and with episodes of poor feeding, during which he would become lax. He was hypotonic with significant head lag and slip-through unresponsive, limp and stare for a few seconds. Developmentally on vertical suspension. His cranial nerves were intact. He moved he was delayed. He was not yet rolling, and he had only just all limbs equally well with normal strength. His deep tendon begun to lift his head in prone position. He could grasp but was reflexes were 3+ at patellar and brachioradialis, and 2+ not reaching or bringing his hands together at the midline. He elsewhere. Plantar responses were upgoing. was cooing but not laughing. His past medical history was Laboratory investigations showed increased lactate (7.7 significant for term delivery with fetal distress and meconium mmol/L) and alkaline phosphatase (505 U/L), with normal CBC, staining. -
Menkes Disease: Report of Two Cases
Iran J Pediatr Case Report Dec 2007; Vol 17 ( No 3), Pp:388-392 Menkes Disease: Report of Two Cases Mohammad Barzegar*1, MD; Afshin Fayyazie1, MD; Bobollah Gasemie2, MD; Mohammad ali Mohajel Shoja3, MD 1. Pediatric Neurologist, Department of Pediatrics, Tabriz University of Medical Sciences, IR Iran 2. Pathologist, Department of Pathology, Tabriz University of Medical Sciences, IR Iran 3. General Physician, Tabriz University of Medical Sciences, IR Iran Received: 14/05/07; Revised: 20/08/07; Accepted: 10/10/07 Abstract Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair abnormalities. Case Presentation: We report on two cases of classical Menkes disease with typical history, (progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance, with brittle, scattered and hypopigmented scalp hairs), and progression. Light microscopic examination of the hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis. Conclusion: Menkes disease is an under-diagnosed entity, being familiar with its manifestation and maintaining high index of suspicion are necessary for early diagnosis. Key Words: Menkes disease, Copper metabolism, Epilepsy, Pili torti, Cerebral degeneration Introduction colorless. Examination under microscope reveals Menkes disease (MD), also referred to as kinky a variety of abnormalities, most often pili torti hair disease, trichopoliodystrophy, and steely hair (twisted hair), monilethrix (varying diameter of disease, is a rare X-linked recessive disorder of hair shafts) and trichorrhexis nodosa (fractures of copper metabolism.[1,2] It is characterized by the hair shaft at regular intervals)[4]. -
Zinc, Copper and Selenium
pISSN: 2234-8646 eISSN: 2234-8840 http://dx.doi.org/10.5223/pghn.2012.15.3.145 Pediatric Gastroenterology, Hepatology & Nutrition 2012 September 15(3):145-150 Review Article PGHN Micronutrient Deficiency Syndrome: Zinc, Copper and Selenium Jee Hyun Lee, M.D. Department of Pediatrics, Hallym University Kangnam Sacred Heart Hospital, Seoul, Korea Nutrients are defined as not only having nutritive values of participating in the metabolism and building the structures of cells but also being safe for human body. Nutrients are divided into two types, macronutrient and micronutrient, according to the proportion of the human body. Commonly, micronutrients include trace elements (trace mineral) and vitamins (complex organic molecules). It is difficult to demonstrate micronutrient deficiency because the symptoms are varied and laboratory analyses are limited. Since parenteral nutrition became an established therapy, micronutrient deficiency syndromes are being identified more frequently and emphasize the importance of a complete nutritional support. In this article, we review various specific trace element deficiency states such as zinc, copper, and selenium and briefly discuss the use of dietary supplements. (Pediatr Gastroenterol Hepatol Nutr 2012; 15: 145∼150) Key Words: Zinc, Copper, Selenium, Dietary supplements, Child INTRODUCTION cules). These micronutrients are necessary for the optimal utilization of the three macronutrients. Nutrients are defined as having nutritive values Trace elements contribute less than 0.01% to body (they participate in the metabolism building struc- weight and a human nutritional requirement has tures of cells) and being presumed to be safe to the been established for iron, iodine, zinc, copper, chro- human body also. Nutrients are classified into three mium, selenium, molybdenum, manganese, and co- macronutrients (carbohydrate, protein and fat) and balt [2]. -
Determination of Trace Element Levels in Patients with Burst Fractures
ORIGINAL ARTICLE Determination of trace element levels in patients with burst fractures Shahab Ahmed Salih Gezh, M.D.,1 Abdurrahman Aycan, M.D.,2 Halit Demir, M.D.,1 Cemal Bozlına, M.D.3 1Department of Chemistry, Yüzüncü Yıl University Faculty of Science and Literature, Van-Turkey 2Department of Neurosurgery, Yüzüncü Yıl University Faculty of Medicine, Van-Turkey 3Department of Neurosurgery, Van Training and Research Hospital, Van-Turkey ABSTRACT BACKGROUND: This study aimed to determine trace element levels (Zn, Fe, Mn, Mg, Cu, Cd, Co, and Pb) in patients with burst fractures in Van Province, Turkey. METHODS: The study included a total of 44 participants with no additional pathologies, including 22 patients with burst fractures aged over 18 years who were admitted to the neurosurgery departments at two hospitals between June 15, 2015 and January 20, 2016 and 22 healthy volunteers. Serum samples were obtained from all participants to measure the serum levels of trace and heavy elements, including Mn, Cd, Cu, Pb, Fe, Co and Zn, using atomic absorbance spectrophotometry. RESULTS: The trace element levels of Zn, Mn, Cu, Co, and Mg were significantly lower (p<0.001), whereas those of Fe, Cd, and Pb were significantly higher in the patient group than in the control group. In addition, the levels of Zn, Mn, Cu, Co, and Mg were lower and the levels of Fe, Cd, and Pb were higher in the patient group than in the control group. CONCLUSION: The probability of burst fracture and its causes leading to any injury may be considered as an indicator balance for the concentration of trace elements between the patient group and control group and may also be a risk factor associated with the bone exposed to burst fracture Significant changes in serum levels of Zn, Cd, Mn, Mg, Pb, Fe, Cu and Zn elements can be observed in patients with burst fractures. -
Copper Deficiency and Non-Accidental Injury
Arch Dis Child: first published as 10.1136/adc.63.4.448 on 1 April 1988. Downloaded from Archives of Disease in Childhood, 1988, 63, 448-455 Current topic Copper deficiency and non-accidental injury J C L SHAW Department of Paediatrics, University College London When parents are brought before the courts accused UNITS OF MEASUREMENT of causing their children serious injury it is impera- Because most of the papers quoted in this review did tive that a strictly medical cause for the injuries not use SI units, it has been decided to give the should not be overlooked. Unfortunately the values as reported in the original papers. The atomic adversarial nature of court proceedings often leads weight of copper is 63 i5, so 1 i0 [tg copper/dl=0- 157 those involved, quite understandably, to give a mmol/l. Because the molecular weight of caerulo- higher priority to winning the case than to discover- plasmin is not known precisely the best SI unit of ing the truth. However in child care proceedings concentration is g/l. finding the truth is often more important than winning the case as it is as much a disaster for a child Copper deficiency to be wrongly removed from the care of loving parents as it is to return a child to guilty parents who The features of copper deficiency given below are copyright. might further injure or kill him. based on 52 cases reported in the paediatric litera- In recent years it has been increasingly common ture since 1956.27 The reports vary considerably in to hear the defence that the child's injuries were the the amount of detail given, depending on the extent result of copper deficiency. -
Malnutrition and Trace Element Deficiencies Trace Elements Deficiencies of Mineral Substances Have Significant Effects on Metabo
Malnutrition and Trace Element Deficiencies Trace Elements Deficiencies of mineral substances have significant effects on metabolism and tissue structure. Trace elements are known as micro minerals and involved in the body's blood production, the structure of the hormones, vitamin synthesis, the formation of the enzymes, and are responsible for the integrity of the immune system and regulation of the reproductive system. Enzymes that become functional due to trace elements are present in all organisms, trace element deficiencies and imbalances have been reported to cause reproductive disorders and inadequacies in immune response. In female animals, especially in the postpartum period, the trace element support required for the regeneration process and milk yield of the endometrium must be performed appropriately. Excess amounts of minerals should be avoided; it should not be forgotten that the minerals that are given too much cause problems like the ones given less. In contrast, manufacturers think that excess amounts will be more useful and often do not know that it causes problems. Trace element deficiencies generally depend on the soil structure and the geography of the breeding region. The amount of a particular mineral in any plant consumed by animals is dependent on the soil on which it grows, its concentration in the soil, the type of the plant and environmental factors in the developmental period. On the other hand, one way feeding of animals may cause mineral deficiencies. Selenium, cobalt, manganese, copper and iodine deficiencies are an important problem in various regions of our country. Trace elements are effective on reproduction on their own and as well as depending on their interaction with each other. -
Essential Trace Elements in Human Health: a Physician's View
Margarita G. Skalnaya, Anatoly V. Skalny ESSENTIAL TRACE ELEMENTS IN HUMAN HEALTH: A PHYSICIAN'S VIEW Reviewers: Philippe Collery, M.D., Ph.D. Ivan V. Radysh, M.D., Ph.D., D.Sc. Tomsk Publishing House of Tomsk State University 2018 2 Essential trace elements in human health UDK 612:577.1 LBC 52.57 S66 Skalnaya Margarita G., Skalny Anatoly V. S66 Essential trace elements in human health: a physician's view. – Tomsk : Publishing House of Tomsk State University, 2018. – 224 p. ISBN 978-5-94621-683-8 Disturbances in trace element homeostasis may result in the development of pathologic states and diseases. The most characteristic patterns of a modern human being are deficiency of essential and excess of toxic trace elements. Such a deficiency frequently occurs due to insufficient trace element content in diets or increased requirements of an organism. All these changes of trace element homeostasis form an individual trace element portrait of a person. Consequently, impaired balance of every trace element should be analyzed in the view of other patterns of trace element portrait. Only personalized approach to diagnosis can meet these requirements and result in successful treatment. Effective management and timely diagnosis of trace element deficiency and toxicity may occur only in the case of adequate assessment of trace element status of every individual based on recent data on trace element metabolism. Therefore, the most recent basic data on participation of essential trace elements in physiological processes, metabolism, routes and volumes of entering to the body, relation to various diseases, medical applications with a special focus on iron (Fe), copper (Cu), manganese (Mn), zinc (Zn), selenium (Se), iodine (I), cobalt (Co), chromium, and molybdenum (Mo) are reviewed. -
Multipoint Linkage Analysis in Menkes Disease T
Am. J. Hum. Genet. 50:1012-1017, 1992 Multipoint Linkage Analysis in Menkes Disease T. T0nnesen,* A. Petterson,* T. A. KruseT A.-M. Gerdest and N. Horn* *John F. Kennedy Institute, Glostrup, Denmark; TInstitute of Human Genetics, University of Aarhus, Aarhus, Denmark; and *Department of Clinical Chemistry, Odense Sygehus, Odense, Denmark Summary Linkage analyses were performed in 11 families with X-linked Menkes disease. In each family more than one affected patient had been diagnosed. Forty informative meioses were tested using 11 polymorphic DNA markers. From two-point linkage analyses high lod scores are seen for DXS146 (pTAK-8; maximal lod score 3.16 at recombination fraction [0] = .0), for DXS1 (p-8; maximal lod score 3.44 at 0 = .0), for PGK1 (maximal lod score 2.48 at 0 = .0), and for DXS3 (p19-2; maximal lod score 2.90 at 0 = .0). This indicates linkage to the pericentromeric region. Multilocus linkage analyses of the same data revealed a peak for the location score between DXS146(pTAK-8) and DXYSlX(pDP34). The most likely location is between DXS159 (cpX289) and DXYS1X(pDP34). Odds for this location relative to the second-best-supported region, be- tween DXS146(pTAK-8) and DXS159 (cpX289), are better than 74:1. Visualization of individual recombi- nant X chromosomes in two of the Menkes families showed the Menkes locus to be situated between DXS159(cpX289) and DXS94(pXG-12). Combination of the present results with the reported absence of Menkes symptoms in male patients with deletions in Xq21 leads to the conclusion that the Menkes locus is proximal to DXSYlX(pDP34) and located in the region Xql2 to Xql3.3.