Part II presents key information on virtually every laboratory and diagnostic test available. [books.google.com]

Presentation [ 4 ] Most metabolic disorders present early in life although milder forms may remain undetected until adulthood. Various presentations are recognised: A neonate or infant presenting with acute metabolic encephalopathy. [patient.info]

Symptoms: galactose present in blood and urine, infantile cataracts. Due to absence of galactose-1-phosphate uridyltransferase. Autosomal recessive. Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. [quizlet.com]

Although in our patient's mother there is no fructose accumulation at present, it is possible that increased ingestion of fruits and vegetables during pregnancy, together with her heterozygosity, caused an accumulation of fructose that finally affected [ncbi.nlm.nih.gov]

These sweeteners are not common in formulas used today. [5] Symptoms such as vomiting, nausea, restlessness, pallor, sweating, trembling and lethargy can also first present in infants when they are introduced to fruits and vegetables. [en.wikipedia.org]

• Unconsciousness

  There may be occasional episodes of unconsciousness. Other symptoms include enlargement of the liver and frequently cirrhosis, and a tendency towards gastrointestinal bleeding because of deficiency of clotting factors. [rarediseases.org]

  […] glucagon injection (a medication used in an emergency to increase blood glucose) and seek emergent treatment when the child has the following symptoms: inability to swallow numbness in mouth or tongue poor coordination poor concentration, confusion unconsciousness [healthofchildren.com]

• Epilepsy

  Central nervous system complications include seizures with subsequent epilepsy, increased intracranial pressure, mental retardation, quadriplegia, and deafness [ Labrune et al., 1990 ; Rennert and Greer, 1970 ]. [clinicalgate.com]

• Flatulence

  Most commonly observed symptoms in HFI: Diarrhea Bloating, flatulence Abdominal pain, vomiting Symptoms of hypoglycemia: sugar craving, tremor, fainting, and in severe cases convulsions, coma Fatigue, depression Long term effects of HFI (due to iron and [healthhype.com]

  The presence of gases and organic acids in the large intestine causes gastrointestinal symptoms such as bloating, diarrhea, flatulence, and gastrointestinal pain. [namrata.co]

  These gases cause the main problems; flatulence, bloating and abdominal pain. Diarrhoea is common. Fructose intolerance may be inherited, but non-genetic factors also play a role. [food-info.net]

  Flatulence/gas. Gastro-oesophageal reflux disease (GORD) style symptoms, such as heartburn. Mental depression. 12 Nausea. Night sweats. Poor absorption of vitamins and minerals, which can lead to secondary health issues. [thefriendlygourmand.com]

  Symptoms Symptoms of fructose malabsorption can include excessive abdominal bloating and gas (flatulence), abdominal cramps and pain, diarrhea, constipation, nausea, vomiting, excessive belching, heartburn (gastric reflux) and lethargy or depression within [nutrientsreview.com]

• Abdominal Bloating

  Bacterial breakdown of lactose results in abdominal bloating and cramps, diarrhea, gas and nausea. Children may also experience inhibited growth and weight loss. [healthyeating.sfgate.com]

  Symptoms Symptoms of fructose malabsorption can include excessive abdominal bloating and gas (flatulence), abdominal cramps and pain, diarrhea, constipation, nausea, vomiting, excessive belching, heartburn (gastric reflux) and lethargy or depression within [nutrientsreview.com]

• Hepatomegaly

  Possibly cirrhosis ( ascites, splenomegaly ) Mild, fasting hypoglycemia and ketosis Hyperlipidemia Proximal myopathy Hepatomegaly Possibly cirrhosis ( ascites, splenomegaly ) Fetal akinesia sequence Peripheral neuropathy Generalized muscle weakness, [amboss.com]

  Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. E.coli sepsis in neonates. Treatment: exclude galactose & lactose(galactose+glucose) from diet. [quizlet.com]

  At 14 months microcephaly and hepatomegaly were noted, with hypertransaminasaemia but normal blood coagulation, glucose, phosphate, and absent urinary reducing substances. Neurological impairment persisted. [ncbi.nlm.nih.gov]

  Galactosemia is a deficiency of Galacto-1-P Uridyl Transferase that leads to cataracts, hepatomegaly, jaundice & retardation. Patients with both disorders should avoid lactose as it contains galactose. [stomponstep1.com]

  Deficient individuals exhibit hypoglycemia, acidosis, ketonuria, hyperventilation, and often hypotonia and hepatomegaly. [doctorabel.us]

• Liver Dysfunction

  Hypogly-cemia (in some cases severe), increased blood uric acid, and liver dysfunction also occur. Fortunately, this disorder can be treated effectively by completely eliminating fructose from the diet. [doctorabel.us]

  Further standard clinical work-up may often reveal nonspecific liver dysfunction. [bu.edu]

  Jaundice or other evidence of liver dysfunction can be a presenting feature of IEMs such as galactosaemia and glycogen storage disorders. Hepatomegaly in the neonatal period or infancy may be a presenting feature of storage disease. [patient.info]

• Kidney Failure

  failure. [1] While HFI is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of HFI. [en.wikipedia.org]

  The undigested fructose collects in the liver and kidneys, eventually causing liver and kidney failure. One person in about 20,000 is born with this disorder. [medical-dictionary.thefreedictionary.com]

  The build up of galactose and the other chemicals can cause serious health problems like a swollen and inflamed liver, kidney failure, ovarian failure in girls, stunted physical and mental growth, and cataracts in the eyes. [hon.ch]

  Fructose may cause liver and kidney failure when taken persistently, and its intake becomes life-threatening when given intravenously. [link.springer.com]

• Enlargement of the Liver

  Other symptoms include enlargement of the liver and frequently cirrhosis, and a tendency towards gastrointestinal bleeding because of deficiency of clotting factors. [rarediseases.org]

  Affected children frequently have a protuberant abdomen because of massive enlargement of the liver. Hepatomegaly may be present at birth. The liver edge is hard and not tender. Careful palpation may reveal enlarged kidneys. [clinicalgate.com]

Short-term treatment of fructose 1-phosphate aldolase deficiency is glucose for hypoglycemia; long-term treatment is exclusion of dietary fructose, sucrose, and sorbitol. Many patients develop a natural aversion to fructose-containing food. [merckmanuals.com]

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms. [ Read More ] [icdlist.com]

Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 157–165. [en.wikipedia.org]

Treatment: exclude galactose & lactose(galactose+glucose) from diet. Fructose is to Aldolase B as Galactose is to UridylTransferease. [quizlet.com]

Prognosis is excellent with treatment. This deficiency causes benign elevation of blood and urine fructose levels (benign fructosuria). Inheritance is autosomal recessive ; incidence is about 1/130,000 births. [merckmanuals.com]

The prognosis depends on how soon the diagnosis is made and how soon fructose and sucrose can be eliminated from the baby's diet. [foodreactions.org]

Expectations (prognosis) Hereditary fructose intolerance may be mild or severe. Avoiding fructose and sucrose helps most children with this condition. A few children with a severe form of the disease will develop severe liver disease. [nicklauschildrens.org]

Prognosis Infants are most at risk of toxicity and liver failure due to undiagnosed HFI, which, for them, is potentially lethal. [thefriendlygourmand.com]

The prognosis is good in most cases. A few children with a severe form of the disease will develop severe liver disease. Even removing fructose and sucrose from the diet may not prevent severe liver disease in these children. [medlineplus.gov]

See also: Diabetes Mellitus : Etiology and Epidemiology; Classification and Chemical Pathology; Dietary Management. Glucose: Chemistry and Dietary Sources; Metabolism and Maintenance of Blood Glucose Level. [doctorabel.us]

Excessive fructose intake (>50 g/d) has been found to be one of the underlying etiologies of obesity, insulin resistance and metabolic syndrome. [namrata.co]

(Etiology) The main cause of Fructose Malabsorption is a high intake of fruit sugar (usually from a young age). [dovemed.com]

Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. Mol Genet Metab. 2000. 69:338-340. [Medline]. Besley GT, Walter JH, Lewis MA, et al. [emedicine.medscape.com]

See also: Diabetes Mellitus : Etiology and Epidemiology; Classification and Chemical Pathology; Dietary Management. Glucose: Chemistry and Dietary Sources; Metabolism and Maintenance of Blood Glucose Level. [doctorabel.us]

Epidemiology Incidence : 1 per 20,000 live births Age of onset : presentation during infancy or childhood Sex : ♂ = ♀ Mode of inheritance : mostly autosomal recessive Pathophysiology Defects in enzymes that are responsible for either glycolysis or glycogenolysis [amboss.com]

Epidemiology The incidence is 40 cases/100,000 live births in a Canadian study [ 1 ]. A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK [ 2 ]. [patient.info]

Epidemiology Frequency International Incidence is approximately 1 in 20,000 live births worldwide. Mortality/Morbidity Patients develop severe hypoglycemia with metabolic acidosis upon ingestion of fructose. [emedicine.medscape.com]

Epidemiology Incidence : 1 per 20,000 live births Age of onset : presentation during infancy or childhood Sex : ♂ = ♀ Mode of inheritance : mostly autosomal recessive Pathophysiology Defects in enzymes that are responsible for either glycolysis or glycogenolysis [amboss.com]

Rutledge AC and Adeli K (2007) Fructose and the metabolic syndrome: pathophysiology and molecular mechanisms. Nutrition Reviews 65: S13–S23. Steinmann B, Gitzelmann R and Van den Berghe G (2001) Disorders of fructose 3 metabolism. [els.net]

Pathophysiology FDPase catalyzes the conversion of FDP to F-6-P, which is a central step in gluconeogenesis. [emedicine.medscape.com]

Prevention Couples with a family history of fructose intolerance who wish to have a baby may consider genetic counseling. Most of the damaging effects of the disease can be prevented by sticking to a fructose-free diet. [nicklauschildrens.org]

Most of the damaging effects of the disorder can be prevented by strictly following the fructose-free diet. Prevention Carriers of the gene for hereditary fructose intolerance can be identified through DNA analysis. [healthofchildren.com]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

Even removing fructose and sucrose from the diet may not prevent severe liver disease in these children. [medlineplus.gov]