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]

• 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]

  Characterized by hyperglycemia, symptoms of diabetes include frequent urination, increased thirst, dehydration, weight loss, blurred vision, fatigue, and, occasionally, coma. [encyclopedia.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]

  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]

  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]

  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]

• Kayser-Fleischer Ring

  Tangier, sialidosis Corneal opacity Oligosaccharidoses, Fabry disease, steroid sulfatase deficiency (X-linked ichthyosis), Tangier, molybdenum cofactor deficiency, sulfite oxidase deficiency Dislocated lens Homocystinuria, sulfite oxidase deficiency Kayser-Fleischer [content.iospress.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]

  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]

  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]

• Seizure

  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]

  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]

  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]

• Peripheral Neuropathy

  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]

  Most commonly, it affects the nerves in the feet, legs, hands, and arms; this condition is called peripheral neuropathy. Peripheral neuropathy can cause tingling, burning, pain, or numbness in the affected areas. [everydayhealth.com]

  neuropathy Congenital disorders of protein glycosylation, leukodystrophies, peroxisomal disorders, Tangier disease Psychoses Adult MLD Tay-Sachs, homocystinuria, porphyrias, purine metabolism disorders Skin Hypopigmentation or absent pigment Cystinosis [content.iospress.com]

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

• Stupor

  Some metabolic disorders cause liver cirrhosis in infants and children and some liver disorders progress to stupor and coma. Liver function tests commonly indicate primary liver diseases. [content.iospress.com]

• Cognitive Impairment

  […] by Clive Evers General outline Hypothyroidism is one of the most important metabolic causes of reversible cognitive impairment. [alzheimer-europe.org]

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

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]

• Glucose Increased

  Criteria include: Abdominal obesity BMI above 25 High triglycerides Low HDL cholesterol High blood pressure or using medicine to lower blood pressure High fasting blood glucose Increased blood clotting. [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]

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

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

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]