We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated. [ncbi.nlm.nih.gov]

Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. [books.google.com]

• Weight Loss

  Malnutrition can also result from limited food availability, unwise food choices, or overzealous use of dietary supplements. cancer: treatment; involuntary weight loss Launching a cookbook for Irish cancer patients with involuntary weight loss. [britannica.com]

  No other weight loss program has addressed these primary causes. [play.google.com]

  Emerging experimental and clinical data point to the demonstrated metabolic benefits of FGF21, which include, but are not limited to, weight loss, glucose and lipid metabolism, and insulin sensitivity. [ncbi.nlm.nih.gov]

  In people with metabolic syndrome, the average weight loss one year after surgery was 31.9 percent of their initial body weight. [yourbariatricsurgeryguide.com]

• Abdominal Obesity

  Abstract Female androgen excess and male androgen deficiency manifest with an overlapping adverse metabolic phenotype, including abdominal obesity, insulin resistance, type 2 diabetes mellitus, non-alcoholic fatty liver disease and an increased risk of [ncbi.nlm.nih.gov]

  For example, high blood pressure alone is a serious condition, but when a patient has high blood pressure along with high fasting glucose levels and abdominal obesity, this patient may be diagnosed with metabolic syndrome. [heart.org]

  Others believe that hormone changes caused by chronic stress lead to abdominal obesity, insulin resistance, and higher blood lipids (triglycerides and cholesterol). [uhhospitals.org]

• Fatigue

  And if your blood sugar is high, you might notice the signs and symptoms of diabetes — such as increased thirst and urination, fatigue, and blurred vision. [mayoclinic.org]

  The patient is readily fatigued and daily routines will take longer. Memory is often affected from an early stage and the patient becomes apathetic and sluggish. Some patients may also show low mood and irritability. [alzheimer-europe.org]

  Hypothyroidism slows body processes and causes fatigue (tiredness), slow heart rate, excessive weight gain, and constipation. Kids and teens with this condition can be treated with oral thyroid hormone. [kidshealth.org]

  Potential symptoms include: Overweight or obesity Large abdominal/waist circumference Dizziness and fatigue Signs commonly associated with diabetes, such as frequent thirst and urination Metabolic syndrome is more effectively pinpointed by testing different [verywellhealth.com]

• Turkish

  Author information 1 Department of Paediatrics, Children's Hospital Linz, Linz, Austria. [email protected] Abstract We report on the fatal clinical course of a 3 year old male Turkish patient suffering from osteopetrosis caused by a homozygous [ncbi.nlm.nih.gov]

  […] diagnosis) Tay-Sachs disease Canavan disease Ashkenazi Jews 33 (before the introduction of preventive prenatal diagnosis) Gaucher disease, type 1 Canavan disease Ashkenazi Jews 100 Phenylketonuria (PKU) Canavan disease Ashkenazi Jews 5 Yemenite Jews 19 Turkish [content.iospress.com]

  Prevalence of metabolic syndrome and associated risk factors among Turkish adults: Trabzon MetS study. Endocrine. 2008 Feb. 33(1):9-20. [Medline]. Mahadik SR, Deo SS, Mehtalia SD. [emedicine.medscape.com]

• Underweight

  An infant with marasmus is extremely underweight and has lost most or all subcutaneous fat. The body has a “skin and bones” appearance, and the child is profoundly weak and highly susceptible to infections. [britannica.com]

  Healthy Eating for Energy Balance and Toward an Ideal Body Weight R40 : As people age, they should implement healthy eating to maintain an ideal body weight, since both overweight and underweight lead to increased morbidity and mortality ( Grade A, BEL [web.archive.org]

  In obese males and females compared to underweight and normal weight individuals these figures spiked to 32 and 17 times, respectively [13]. [bmcmedicine.biomedcentral.com]

• Failure to Thrive

  Symptoms of Inherited Metabolic Diseases can include a failure to thrive, seizures and other neurologic disorders, developmental delays, abnormal blood tests and hypotonia (abnormal loss of muscle tone). [mountsinaifpa.org]

  In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of unknown cause may qualify. [clinicaltrials.gov]

  Undernutrition is a condition in which there is insufficient food to meet energy needs; its main characteristics include weight loss, failure to thrive, and wasting of body fat and muscle. [britannica.com]

  Most clinical manifestations of lysinuric protein intolerance ( i.e. failure to thrive, gastrointestinal disease, bone-marrow abnormalities, osteoporosis and renal disease) have been well characterised and are related to the metabolic derangement [ 69 [err.ersjournals.com]

  The more severe IEMs may cause failure to thrive or develop properly, abnormally small or large body parts, bone deformities, or general lethargy. [encyclopedia.com]

• Nausea

  Gastrointestinal symptoms (transient abdominal pain, diarrhea or nausea) are the most common side effects reported for metformin use (81). [frontiersin.org]

• Blister

  When porphyria affects the skin, the person may have blisters, itching, swelling, or extreme sensitivity to the sun. When it affects the brain, it can cause hallucinations*, delirium*, seizures, depression, anxiety, and paranoia*. [encyclopedia.com]

• Osteoporosis

  Symptoms include a pronounced flush of the cheeks, a tall, thin frame, lens dislocation, vascular disease, and thinning of the bones (osteoporosis). Intellectual disability and psychiatric disorders also may be present. [britannica.com]

  Diabetes, Metabolism, Nutrition, College of Medicine, Mayo Clinic 5 Sansum Diabetes Research Institute 6 Division of Endocrinology, Diabetes, and Bone Disease, Icahn School of Medicine at Mount Sinai, New York, New York 7 Bone Densitometry Unit and Osteoporosis [doi.org]

  Metabolic disorders often lead to secondary diseases such as osteopenia, which is a pre-stage of osteoporosis, generating loss of bone. © Dr. J. Barranger and Dr. L.W. [gesundheitsindustrie-bw.de]

  A 24-hour urine calcium collection should be measured in patients with osteoporosis or patients at risk for bone loss in order to check calcium adequacy and test for hypercalciuria or malabsorption ( Grade B, BEL 2 ). Q7.2. [web.archive.org]

  Syndrome Diet Journal of Nutritional Disorders & Therapy,Journal of Nutrition & Food Sciences, Journal of Food and Nutritional Disorders, Journal of Diabetes Medication & Care, Nutrition, American Journal of Physiology - Endocrinology and Metabolism, Osteoporosis [omicsgroup.org]

• Muscle Weakness

  We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated. [ncbi.nlm.nih.gov]

  When energy levels become too low, muscle weakness and exercise intolerance with muscle pain or cramps may occur. [mda.org]

  Other adverse effects of metabolic diseases include seizures, movement disorders, poor growth, muscle weakness, fasting intolerance and disproportionate illness with simple childhood infections or immunizations. [kennedykrieger.org]

  Neurological disturbances are often reported with deafness, slurred speech, a gruff husky voice, muscle cramps and muscle weaknesses and carpal tunnel syndrome at the wrists. [alzheimer-europe.org]

  […] function should be monitored independently from the degree of peripheral muscle weakness. [err.ersjournals.com]

• Kidney Failure

  Persons with the classic form of methylmalonic acidemia (MMA), caused by a defect in the enzyme methylmalonyl-CoA mutase, have symptoms similar to individuals with propionic acidemia but may also develop the long-term complication of kidney failure. [britannica.com]

  This may contribute to heart attacks, strokes, kidney failure and atherosclerosis. [secondopinion-tv.org]

  About 40 percent of people with type 1 diabetes develop severe kidney disease and kidney failure by the age of fifty. [encyclopedia.com]

  Type 2 Diabetes Type 2 Diabetes Drug May Decrease Kidney Failure Risk by About One-Third, a Study Finds The SGLT2 inhibitor may help guard against the common and costly diabetes complication, researchers say. [everydayhealth.com]

• Renal Insufficiency

  insufficiency Peripheral vascular disease Obstructive sleep apnea Pediatrics Epidemiology Prevalence – 6.4% (Cook, 2007, using National Health and Nutrition Examination Survey [NHANES] data, 1999-2000) Sex – M>F Age – usually ≥12 years Definition of [arupconsult.com]

• Seizure

  Life-threatening symptoms, such as breathing problems, seizure and organ failure can occur with acute metabolic disturbance, such as too much alcohol. [houstonmethodist.org]

  Typical of: pyridoxine dependent seizures pyridoxal phosphate responsive seizures glucose transporter (GLUT-1) defect non-ketotic hyperglycinaemia molybdenum cofactor or sulphite oxidase deficiency. [bettersafercare.vic.gov.au]

  A 4-month-old female baby visited an outpatient clinic due to poor weight gain, repeated seizure-like episodes, developmental delay, and unexplained hepatomegaly with abnormal liver function test results. [ncbi.nlm.nih.gov]

  Symptoms of Inherited Metabolic Diseases can include a failure to thrive, seizures and other neurologic disorders, developmental delays, abnormal blood tests and hypotonia (abnormal loss of muscle tone). [mountsinaifpa.org]

  Non-ketotic hyperglycinemia is characterized by seizures, low muscle tone, hiccups, breath holding, and severe developmental impairment. [britannica.com]

• Headache

  These include possible headaches when you have high blood pressure. Or you may have frequent urination and unusual thirst when you have diabetes. What causes metabolic syndrome ? A number of factors can act together to cause metabolic syndrome. [familydoctor.org]

  Health Gastrointestinal Eosinophilic Diseases Program Orthopedics General Orthopedics Program Genetics & Inherited Metabolic Diseases Gynecology H Orthopedics Hand and Upper Extremity Program Rehabilitation Medicine Hand Therapy Program Neuroscience Headache [childrenscolorado.org]

  While aspirin does not require a prescription and is commonly used for dealing with fevers and headaches, individuals should always consult a doctor before taking aspirin on a daily basis. [healthengine.com.au]

• Peripheral Neuropathy

  Peripheral neuropathy can cause tingling, burning, pain, or numbness in the affected areas. The pain of peripheral neuropathy is difficult to control, though some find topical products that contain capsaicin to be helpful. [everydayhealth.com]

  Examples of conditions that come in genetically determined and nongenetic types include dementias of the subtypes Alzheimer, Pick, frontotemporal, Parkinson disease, amyotrophic lateral sclerosis, and peripheral neuropathies. [emedicine.medscape.com]

  The reduced blood flow leads to reduced oxygen delivery to needy tissues, resulting in increased peripheral neuropathy commonly seen in diabetes. [drlam.com]

  Figures and Tables Fig.1 Vacuolated lymphocyte in the peripheral blood of a patient with mannosidosis. Fig.2 Approach to the differential diagnosis of hypoglycemia. [content.iospress.com]

• Apathy

  Other symptoms of kwashiorkor include apathy, hair discoloration, and dry, peeling skin with sores that fail to heal. [britannica.com]

  These lipids accumulate in the brain and cause severe problems including blindness, deafness, apathy, and death usually before age of five years. [encyclopedia.com]

• Slurred Speech

  Neurological disturbances are often reported with deafness, slurred speech, a gruff husky voice, muscle cramps and muscle weaknesses and carpal tunnel syndrome at the wrists. [alzheimer-europe.org]

  speech Sleep disturbances, including night sweats, nightmares, waking suddenly and crying out, or feelings of confusion upon waking If hypoglycemia isn't treated right away, low blood sugar may result in life-threatening complications such as seizure [everydayhealth.com]

(See Prognosis, Workup, Treatment, and Medication .) [emedicine.medscape.com]

Furthermore, advanced cardiovascular indicators such as lipoprotein (a), homocysteine, and C reactive protein (an indicator of endothelial inflammatory response) should be part of the routine workup of anyone suspected of Metabolic Syndrome. [drlam.com]

Many chemical screening programs such as determination of organic and amino acids, oligosaccharides, and glycosaminoglycans in blood and urine are available for diagnostic workup of suspected progressive degenerative metabolic diseases. [content.iospress.com]

• Glucose Increased

  This means you have type 2 diabetes, impaired fasting glucose, or impaired glucose tolerance. The impaired glucose tolerance test measures the body's response to sugar. [uhhospitals.org]

As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. [books.google.com]

Treatment for PKU Dietary treatment of PKU begins with limiting the amount of phenylalanine going into the blocked pathway. [medschool.lsuhsc.edu]

This system has therefore generated great interest as a potential target for treatment of obesity. [ncbi.nlm.nih.gov]

These tests ensure that timely referral and treatment will occur for your baby. [urmc.rochester.edu]

BACKGROUND: Recent data suggest that the presence of associated metabolic abnormalities may be important modifiers of the association of obesity with a poorer prognosis in coronary heart disease. [ncbi.nlm.nih.gov]

If an infant is known to have a metabolic disorder soon after birth, appropriate therapy can be started early, which may result in a better prognosis. Some metabolic disorders respond very well if treatment is introduced at an early age. [britannica.com]

In pediatric patients, its main etiology is infectious diseases. We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. [ncbi.nlm.nih.gov]

Some investigators turn to studies on the relationship of insulin resistance to the etiology of atherosclerosis ( 133 – 136 ) and to the underlying etiology of type 2 diabetes ( 137 ) as evidence that insulin resistance is the more important abnormality [care.diabetesjournals.org]

PURPOSE OF REVIEW: This review summarises and discusses the epidemiological evidence suggesting a causal relationship between sleep duration and cardio-metabolic risk and outcomes in population. [ncbi.nlm.nih.gov]

To this end, we employ molecular biological techniques including high-throughput approaches – genomics, proteomics, epigenomics –, stem cell technologies, model organisms and transgenic techniques, alongside epidemiological studies and imaging techniques [mdc-berlin.de]

In this article, we summarize the current understanding of autophagy-its classification, progression, and regulation; its roles in both physiological and pathophysiological conditions; and the balance between autophagy and apoptosis. [ncbi.nlm.nih.gov]

For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995). [books.google.com]

The comprehensive prevention and control strategy "Tiao Gan Qi Shu Hua Zhuo" (modulating Gan, trigging key metabolic system to resolve pathogenic factors such as phlegm retention and dampness). [ncbi.nlm.nih.gov]

[…] that it can be more effectively managed and prevented when it is recognized as such. [amazon.com]