what are the two types of methylmalonic acidemia(aciduria)?
- 2 Answers
- 4020 Views
- Aurobindo, I also Faced
- E-Mail Answers
Answer Posted / shivani
MMA is caused by 3 main reasons -
1. functional impairment of enzyme methylmalonyl CoA mutase
[MCM] requiring Vitamin B12 as cofactor; which may be due
to mutations in MUT gene which codes the enzyme
2. mutations in genes reqiured for VitB12 processing &
transport
3. dietary deficiency of VitB12.
So depending on the cause there two major types of
methylmalonic aciduria [MMA]
1. Vitamin B12 responsive - the early [neonatal] onset &
severe type
2. Vitamin B12 - non responsive - the late onset & mild type
depending on the patient's response to VitB12 therapy.
| Is This Answer Correct ? | 2 Yes | 0 No |
Post New Answer View All Answers
Which branch of science deals with the transformation of chemical energy into electrical energy and vice versa?
What is meant by substrates of enzymatic reactions?
What are respectively some remarkable functions of albumin?
Explain what is the primary structure of a protein? What is the importance of the primary structure?
What are the three main types of rna? What is meant by heterogeneous rna?
What does thermodynamics helps in predicting?
Which property among the following generally increases from top to bottom in a group 1a? 1. Electropositive, density, basic nature, classical reactivity
How do we prepare diborane?
Give the type of functional group, general formula, and the suffix for methanoic acid (or) formic acid.
What factors can change the pKa value of an amino acid residue, and in which direction?
Which are the nucleotides “portions” that bind in the formation of nucleic acids? What is meant by the 5’ and 3’ extremities of nucleic acids?
What is banana bond? Diborane contains how many banana bonds
What is the super phosphate of lime?
What is the lattice energy of nacl?
Explain heat of combustion?
