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Top: Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Inherited
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Sites listed here will be concerned with the signs, symptoms, treatment, research, and experience of people with inherited metabolic disorders. |
Many disorders of metabolism have a genetic component, or are presumed to do so, with research being directed at finding the factors responsible.
Amyloid (pronounced am'-i-loyd) is an abnormal protein that may be deposited in any of your body's tissues or organs. This abnormal protein comes from cells in your bone marrow. The disease known as amyloidosis (pronounced am-i-loy-do'-sis) results when enough amyloid protein builds up in one or more organs to cause the organ(s) to malfunction. The heart, kidneys, nervous system and gastro-intestinal tract are most often affected.From the Mayo Clinic Rochester
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. First presentation is usually between two and four years of age, such young patients often suffering from prolonged upper respiratory infections. Developmental of both motor and cognitive skills lags steadily behind that of normal children, and at the puberty AGU patients are mildly or moderately mentally retarded. With increasing age overall performance further declines; the life span of severely retarded individuals is 45 to 50 years.
Congenital Chloride diarrhea (CLD) is an intestinal transport defect of chloride ions. Retention of intestinal chloride causes water retention, which leads to watery diarrhea with an abnormally high chloride concentration. This defect presents in utero, with hydramnion presumably due to intrauterine diarrhea. The gestational period is shortened, and newborn babies have abdominal distension and chronic watery diarrhea. If untreated the condition leads to severe electrolyte changes with a fatal outcome, or to permanent damage of kidneys and brain. Treatment with chloride substitution and control of electrolyte balance is effective and patients can live an almost normal life complicated only by relatively loose stools.
Gracile Syndrome is an autosomal recessive metabolic disorder presenting with fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis), profound lactic acidosis, and early death. It is sometimes known as Fellman syndrome.
LPI is an autosomally recessively inherited amino acid disorder due to defective transport of cationic amino acids lysine, arginine and ornithine in the intestine and kidney tubules. The absence or dysfunction of the transport process leads to low plasma and high urine concentration of the cationic (dibasic) amino acids. Clinical presentation of the disease usually takes place during the weaning period when breast feeding is replaced by cows milk and other high protein diets. Nausea, vomiting and mild diarrhea usually are the first symptoms followed by failure to thrive and growth retardation. Later liver and spleen become enlarged, muscles are hypotonic and osteoporosis can cause bone fractures. High protein intake can lead to hyperammonemia and even to coma, possibly accounting for the mild intellectual deficit found in few cases of LPI. Many patients have spontaneously developed aversion to protein rich food. A pulmonary complication of unknown mechanism, alveolar proteinosis has occurred in few patients during adulthood with fatal outcome.
Madelung's Disease (also called Multiple Symmetrical Lipomatosis [MSL], Benign Symmetric Lipomatosis or Lanois-Bensaude Syndrome) is a metabolic condition characterized by the growth of fatty masses around the face, back of the head, neck, upper arms, abdomen, back and upper leg in a very specific pattern or distribution. Unlike the usual lipoma, these benign, fatty masses are not enclosed within a membranous capsule with very distinct boundaries. It is because of this characteristic, as well as the absolute symmetry in their occurrence, that the condition is often dismissed as simple obesity.
Site about and for those dealing with Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder present in about four in a million births, that, untreated, causes mental retardation, physical disabilities and death.
Mucopolysaccharides are long molecular chains of sugar. They are used by the body in the building of connective tissues. They must also be broken down and reused by the body. Children with MPS are unable to produce one of the enzymes essential to this task.Mucopolysaccharide diseases (or Mucopolysaccharidosis or MPS) are genetic diseases caused by recessive genes.
There are seven Mucopolysaccharide (MPS) disorders. They are referred to as MPS I-VII but many of them go by the name of the doctor who first described the condition as well.
Hunter syndrome, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux-Lamy syndrome, and Morquio disease are all Mucopolysaccharide diseases.
Nonketotic hyperglycinemia is an inborn error of glycine degradation pathway presenting during the first days, even hours, of the newborn and causing severe brain damage and often early death. Glycine acts as neurotransmitter and its increased concentration due to deficient degradation has brain damaging effect. NKH does not affect the intrauterine development but after normal delivery the disease presents during the first days of life - 66 percent of cases were symptomatic before 48 hrs of life in one large series. Patients develop lethargy and profound hypotonia and refuse to feed. Wandering eye movements and intermittent ophthalmoplegia are frequent. As the encephalopathy progresses to coma, the infants develop frequent sequential myoclonic jerks, apneic episodes and hiccups. Most patients do not survive this stage without assisted ventilation. Even with assisted ventilation about 30 percent of patients die during the neonatal period. The surviving infants usually regain spontaneous respiration by 3 weeks of age, but are severely brain damaged until death at the age of few months to several years. The diagnosis of NKH is based on increased concentration of glycine in urine, plasma and cerebrospinal fluid.
The result of changes in the blood's nitrogen-containing substances, or porphyrins.
Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3 (FMO3).When FMO3 is not working correctly, the body loses the ability to properly breakdown trimethylamine.
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