4 results found for "3M"
The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation. [read more]
3-Methylcrotonyl-CoA carboxylase deficiency is known by many names. It is also called as 3MCC deficiency, Methylcrotonylglycinuria type 1, or BMCC. This is a disorder that can be inherited where the human body becomes incapable of properly processing some proteins. Those who suffer from this deficiency have an insufficient supply of leucine-breaking enzyme. Leucine is an amino acid which is a protein base. [read more]
3-Methylglutaconic aciduria also known as MGA is a term that is used to depict at least 5 varying disorders which makes the body incapable of creating mitochondrial energy. Due to this impairment, 3-methylglutaric acid and 3-methylglutaconic acid create a buildup and their presence can be detected in the patient's urine. 3-Methylglutaconic acid, by classification, is an organic acid. The potency of this acid is made possible by the roles of the double carboxylic acids. The acid function makes the 3-methylglutaconic acid detectable. [read more]
3M syndrome is known by many names. It can also be called as Three M syndrome or dolicospondylic dysplasia; le Merrer syndrome or gloomy syndrome (because prevalent symptoms show malformities on the patients' faces). This is a very rare illness where only 32 patients have been reported to have acquired it. Its name originated from the names of the authors who first described the characteristics of the illness. The authors' names were Miller, J.D., Malvaux P. and the third is McKusick, V.A. No mental retardation has been mentioned as a result of 3M. This disorder is known as an autosomal recessive trait of the genes and can be inherited. [read more]