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Rare disorder: It is a rare (1/100, 000) autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with progressive encephalopathy, and is often fatal. Less comonly, it can appear during childhood and often developmental delay and intellectual disabilities can be seen. Hope this helps. ...Read moreSee 1 more doctor answer
Body odor: Body odor is caused by the bacteria breakdown of sweat. Most medications cause the reduction of sweat. There is over the counter topical certaindri, topical prescription drysol and 3% topical glycopyrrolate. There is the oral medication Robinul but there are side effects. Also Botox injections reduce sweat. One can treat the bacteria by topical antibiotics. See you local dermatologist for help. ...Read moreSee 1 more doctor answer
PKU, Galactosemia: Phenylketonuria (pku) is one that is mentioned on soda containing aspartame. Galactosemia is tested for in every newborn in the us, but many others have recently been added to the panel including mcad, lcad and lchad deficiencies, maple syrup urine disease, biotinidase deficiency, methylmalonic and propionic acidemia. One not currently screened for is ornithine transcarbamylase (otc) deficiency. ...Read moreSee 1 more doctor answer
Several: Phenylketonuria (PKU), congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase deficiency, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, homocystinuria, glutaric academia type I, isovaleric acidemia and methylmalonic academia. These 11 congenital metabolic disorders are included in the newborn screening program. ...Read more
Propionobacteria: These are present on the skin and break down Amino Acids present in the sweat glands in to propionic acid or propanoic acid. These are similar to Acetic Acid and smell like vinegar to some people. There is nothing wrong with you. See a dermatologist if you are seeking a way to rid yourself of this odor. ...Read more
I have just been diagnosid with d-lactic acidosis. Im having a hard time learning about it. Can u please help me understand it better?
Unusual diagnosis: Caused by production and absorption of d-lactic acid in colon. This occurs when glucose and carbohydrates are delivered to the colon and are metabolized by gram positive anaerobes (lactobacillus). Resulting d- Lactic Acid is absorbed into bloodstream but not broken down by enzymes which only recognize l-lactic acid. So you become acidotic. Episodes of acidemia occur with carbohydrate loads. ...Read more
Metabolic Acidosis: In medicine, metabolic acidosis is a condition that occurs when the body produces too much acid or when the kidneys are not removing enough acid from the body. If unchecked, metabolic acidosis leads to acidemia, i.e., blood ph is low (less than 7.35) due to increased production of hydrogen by the body or the inability of the body to form bicarbonate (hco3-) in the kidney. ...Read more
My 16 months son has ethyl malonic aciduria, his course r vitamine and special diet.What r the medicines the latest researches discover to cure it?
No cure: The disorder methylmalonic acidemia is an inborn error in metabolism that is present in every cell of his body. There is no cure, but modified diet and careful monitoring of levels and vitamins will allow good development and good health for most children. An experienced genetic metabolic clinic can help answer your questions and keep you informed about the most current research. ...Read more