MMAB Human
Prospec's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
Description
Product Specs
MGSSHHHHHH SSGLVPRGSH MQSRGPQGVE DGDRPQPSSK TPRIPKIYTK TGDKGFSSTF TGERRPKDDQ VFEAVGTTDE LSSAIGFALE LVTEKGHTFA EELQKIQCTL QDVGSALATP CSSAREAHLK YTTFKAGPIL ELEQWIDKYT SQLPPLTAFI LPSGGKISSA LHFCRAVCRR AERRVVPLVQ MGETDANVAK FLNRLSDYLF TLARYAAMKE GNQEKIYKKN DPSAESEGL.
Product Science Overview
Methylmalonic Aciduria (MMA) is a rare metabolic disorder characterized by the accumulation of methylmalonic acid in the blood and urine. This condition is caused by a deficiency in the enzyme methylmalonyl-CoA mutase, which is essential for the metabolism of certain amino acids and fatty acids . MMA can be classified into different types based on the underlying genetic mutations and the specific metabolic pathways affected.
Methylmalonic Aciduria Type B, also known as cblB type, is a specific form of MMA caused by mutations in the MMAB gene. This gene encodes an enzyme called adenosyltransferase, which is involved in the conversion of vitamin B12 into its active form, adenosylcobalamin (AdoCbl) . AdoCbl is a crucial coenzyme for the proper functioning of methylmalonyl-CoA mutase.
Human recombinant MMAB is a laboratory-produced version of the MMAB enzyme. It is typically produced in Escherichia coli (E. coli) bacteria and purified using chromatographic techniques . The recombinant enzyme is used in research and therapeutic applications to study the biochemical pathways involved in MMA and to develop potential treatments for the disorder.
The MMAB enzyme catalyzes the final step in the conversion of vitamin B12 into AdoCbl. This process is essential for the proper metabolism of certain amino acids (such as threonine, methionine, isoleucine, and valine) and odd-chain fatty acids . In individuals with cblB type MMA, the deficiency of MMAB leads to the accumulation of methylmalonic acid, resulting in various clinical symptoms.
Patients with MMA, including the cblB type, may present with a range of symptoms, including developmental delays, feeding difficulties, vomiting, lethargy, and metabolic acidosis . Diagnosis is typically based on biochemical tests that measure the levels of methylmalonic acid in the blood and urine, as well as genetic testing to identify mutations in the MMAB gene.
The treatment of MMA is complex and requires a multidisciplinary approach. Management strategies may include dietary modifications to reduce the intake of certain amino acids, supplementation with vitamin B12, and regular monitoring of metabolic parameters . In some cases, liver or kidney transplantation may be considered as a treatment option.
