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 Gain

  Abstract Maternal obesity, excessive gestational weight gain, and preexisting diabetes are known risk factors for increased maternal and neonatal morbidity. These conditions are more prevalent in certain racial and ethnic minorities. [ncbi.nlm.nih.gov]

  The 20Lighter Program is the only program to incorporate natural strategies to address dietary inflammation, the fundamental cause of weight gain, regain after weight loss, and metabolic diseases associated with fat storage. [play.google.com]

  Phenotype Information for 004456 NONcNZO10/LtJ (also known as RCS-10) males develop maturity-onset diabetes without the extreme weight gain characteristic of... [jax.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]

• Swelling

  […] cholesterol) high blood pressure that's consistently 140/90mmHg or higher an inability to control blood sugar levels (insulin resistance) an increased risk of developing blood clots, such as DVT (deep vein thrombosis) a tendency to develop irritation and swelling [nhs.uk]

  Pale, yellow skin; loss of the outer edge of the eyebrows; thin and brittle hair; coarse facial features; brittle nails; firm swelling of the arms and legs; and mental slowing may be noted. [alzheimer-europe.org]

  For example, in people suffering from Gaucher’s disease, which is characterised by the lack of an enzyme required to degrade sugar-containing substances, organs such as the spleen, the liver or the lungs swell, potentially leading to irreparable damage [gesundheitsindustrie-bw.de]

  It causes symptoms such as weight loss, increased heart rate and blood pressure, protruding eyes, and a swelling in the neck from an enlarged thyroid (goiter). The disease may be controlled with medicines or through surgery or radiation treatments. [kidshealth.org]

• Recurrent Infection

  Lung biopsy was performed in three children with recurrent severe lower airways infections of unknown aetiology, thus allowing the diagnosis of Niemann–Pick disease type B [ 117 ]. Table 4. [err.ersjournals.com]

• Increased Susceptibility to Infections

  Vitamin deficiency can lead to anaemia or to an individual’s increased susceptibility to infections. On the other hand, metabolic diseases might also be the cause of diseases such as arteriosclerosis. [gesundheitsindustrie-bw.de]

• Vomiting

  She had a previous diagnosis of cyclic vomiting syndrome (CVS) for more than 10 years, warranting frequent hospital admissions. The association between CVS and MADD has been made before though the exact relationship is unclear. [ncbi.nlm.nih.gov]

  During periods of metabolic stress, affected individuals may develop hypoglycemia, lethargy, vomiting, seizures, and liver dysfunction. Intravenous hydration and glucose must be given in a timely fashion, otherwise the disease can be fatal. [britannica.com]

  Some symptoms of inherited metabolic disorders include: Lethargy Poor appetite Abdominal pain Vomiting Weight loss Jaundice Failure to gain weight or grow Developmental delay Seizures Coma Abnormal odor of urine, breath, sweat, or saliva The symptoms [webmd.com]

  Tell your doctor if your infant has any of these: Excessive sleepiness Weak muscles Persistent vomiting Feeding problems Rapid breathing Muscle spasms or twitches Developmental delays Seizures Problems with hearing or sight Problems with the liver, including [winchesterhospital.org]

  Symptoms may include poor growth, irritability, vomiting, seizures and confusion Familial hypercholesterolaemia (FH) - a condition where there are abnormally high levels of cholesterol in the blood. Very often several family members are affected. [bwc.nhs.uk]

• 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]

• Abdominal Pain

  Some symptoms of inherited metabolic disorders include: Lethargy Poor appetite Abdominal pain Vomiting Weight loss Jaundice Failure to gain weight or grow Developmental delay Seizures Coma Abnormal odor of urine, breath, sweat, or saliva The symptoms [webmd.com]

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

• Nausea

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

• Skin Rash

  It also can cause the skin and urine to give off an unusual musty odor and lead to skin rashes. Fortunately, doctors can determine whether an infant has PKU almost immediately after birth. [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 [omicsonline.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]

• 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]

• 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]

• 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]

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]

• Hyperglycemia

  We also explore how dysregulation of autophagy leads to cell death in models of metabolic disease and its contributing factors-including nutrient state, hyperglycemia, dyslipidemia, insulin inefficiency, and oxidative stress-and outline some recent efforts [ncbi.nlm.nih.gov]

  Insulin resistance disrupts these pathways, resulting in hyperglycemia and dyslipidemia. [newswise.com]

  Moreover, postprandial hyperglycemia in a patient with IFG denotes diabetes, a high-risk condition for CVD. [ahajournals.org]

  High blood sugar is called hyperglycemia; hypo glycemia is low blood sugar. [everydayhealth.com]

• Hypoglycemia

  The disorders commonly manifest with hypoglycemia, liver disease, decreased muscle tone, and heart failure (cardiomyopathy). [britannica.com]

  Extension trial assesses benefit of switching from flash monitoring to RT-CGM for hypoglycemia In follow-up to the I HART CGM study, which showed the benefit of real-time continuous glucose monitoring compared to flash monitoring for time spent in hypoglycemia [news-medical.net]

  Diabetes Diagnostics Confidently screen patient blood glucose levels for diabetes mellitus, gestational diabetes and hypoglycemia. Thyroid Disease Diagnostics Achieve results you can count on when testing patients for thyroid disease. [thermofisher.com]

  We treat patients with: Diabetes Type 1 Diabetes (also known as Juvenile Diabetes) Type 2 Diabetes Gestational Diabetes Hypoglycemia Endocrine Diseases Adrenal Disorders Thyroid Disorders Parathyroid Disorders Metabolic Bone Disease Pituitary Gland Disorders [uchealth.com]

  Galactosemia Glutaric acidemia types 1 and 2 Glutathione synthetase deficiency Glycogen storage diseases Holocarboxylase synthetase deficiency Homocystinuria Hyperammonemia, homocitrullinemia, hyperornithinemia syndrome (HHH) Hypermethioninemia Hyperprolinemia Hypoglycemia [mountsinaifpa.org]

• 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]