Hypermethioninemia Methionine adenosyltransferase deficiency

Disease is a congenital amino acid metabolic abnormalities diseases, due to gene mutation cause it to be a methylthio acid (methionine) transforming into a S-adeno-Gan methyl sulfuric acid amine(S-adenosylmethionine; referred to AdoMet) the desired enzyme functionality the lack of, this enzyme is called methionine adenosyltransferase, MAT, will lead to in blood methionine accumulation of and to elevated.Such methylthio amine acid elevated is not a because of the high Homocystinuria (homocystinuria), first-type Tyrosinemia (tyrosinemia) and liver diseases caused by, but still continued to incur high methionine the phenomenon of's illnesses, so the are defined as High a methylthio amine acid hyperlipidemia, also known as MAT deficiency.








Clinical featuresMost of the the patient's MAT enzyme there is a little the remnants of functionality, enzymes activity of just part does not activation, so the multi-belong to benign, Generally speaking there is no obvious of the symptoms. But there are also reports in the literature MAT a complete lack of patients were found to have muscle low-tension, mental retardation and tardive's nerves demyelination(Delayed demyelination) and other neurological learn of symptoms.
Treatment wayIn order to low-methylthio amine acid diet carry on diet control treatment, in order maintain blood in a methionine can be controlled in appropriate concentration, and regularly monitoring of in blood methionine the concentration of, in order to understand diet control's curative effect.
Prognosis isNewborn screening after the began to of diet therapy average time for 42 days (23-82 days), traced to six years of age. Their average IQ of is 96, the Language average IQ is 90, the development of average IQ is 98, and did not developmental delay issue. Although Taiwan is the currently screening out of the patients multi-belong to benign, but is still recommended you want to methionine control the Yu the ideal the concentration of; the ideal's blood middle MET concentration should be maintained after a meal 2-4 hours the bloodstream MET concentration in in 18 to 45 μmol / l.
IncidenceIn order to National Taiwan University Hospital newborn screening experience of the Centre point of view, 12 years of inter-screening a 1,701,591 months newborns, of which is recognized as an Gao A sulfuric acid hyperlipidemia of children with a total 16 people (occurrence of rate was 106,349 VCIE).
Genetic modeGao methylthio amine acid hyperlipidemia (MAT enzyme deficiency herniation) for the recessive genetic diseases; Sick Children due to the same time with 2 mutant genes (by the parents each scored a mutated gene), while the amino acid metabolic abnormalities onset.Parents both of whom belt of the original those who (there is a mutant gene, but no clinical symptoms referred to as belt of the original those who), which they students of offspring middle there are 1/4 chance will be gave birth to Gao methionine hyperlipidemia Patient, the patient probability there is no gender of the points.