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A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Hereditary fructose intolerance (HFI) results in poor feeding, failure to thrive, chronic liver disease and chronic kidney disease, and death. HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation ...
Blood cell disorders. Variant hemoglobinopathies (including Hb E) [1] Glucose-6-phosphate dehydrogenase deficiency (G6PD) Inborn errors of amino acid metabolism. Tyrosinemia II [1] Argininemia [1] Benign hyperphenylalaninemia; Defects of biopterin cofactor biosynthesis [1] Defects of biopterin cofactor regeneration [1] Tyrosinemia III [1 ...
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
However, this disease was less mentioned in medical books because it was erroneously considered to be an aesthetic rather than a clinical disorder. [18] Congenital iodine-deficiency syndrome was especially common in areas of southern Europe around the Alps and was often described by ancient Roman writers and depicted by artists.
Catch-up growth can alter fat distribution in children diagnosed with IUGR as infants and increase risk of metabolic syndrome. [39] Infants with IUGR may be susceptible to long-term dysfunction of several endocrine processes, including growth hormone signaling, the hypothalamic-pituitary-adrenal axis, and puberty. [40]
A common sign of low-tone infants is a tendency to observe the physical activity of those around them for a long time before attempting to imitate, due to frustration over early failures. Developmental delay can indicate hypotonia. [citation needed] MRI Brain is used to rule out structural malformations in the brain or metabolic disorders. [4]