Is MMA elevated in B12 deficiency?

Is MMA elevated in B12 deficiency?

A high level of MMA can mean that you have a low level of B-12. Vitamin B-12 deficiency is the most common cause of MMA production. Foods that can increase B-12 levels include red meats, shellfish, fish, dairy, and cereals fortified with the vitamin.

Is methylmalonic acid low in B12 deficiency?

In general, normal levels of methylmalonic acid are between 0.00 and 0.40 umol/mL (micromoles per milliliter). Although higher levels of methylmalonic acid may be an indication of vitamin B-12 deficiency, elevated levels may not warrant immediate treatment.

Is methylmalonic acid vitamin B12?

The measurement of elevated amounts of methylmalonic acid in the blood or urine serves as a sensitive and early indicator of vitamin B12 deficiency. A B12 deficiency can occur when your nutrition intake is poor or you have gastrointestinal malabsorption issues.

What is the best test for B12 deficiency?

An MMA test is most often used to diagnose a vitamin B12 deficiency. This test is also used to diagnose methylmalonic acidemia, a rare genetic disorder. Symptoms of this disorder can range from mild to severe and may include vomiting, dehydration, developmental delays, and intellectual disability.

Why is B12 low in MMA?

Since MMA builds up due to inadequate vitamin B12 levels, it is used as a functional indicator of vitamin B12 status [2]. Methylmalonic acid levels increase in the early stages of vitamin B12 deficiency, when vitamin B12 levels may still be in the normal range.

Are symptoms of vitamin B12 deficiency reversible?

A. A deficiency of vitamin B12 can cause neurological and psychiatric problems that “can progress if left untreated, and can lead to irreversible damage,” said Dr. Donald Hensrud, director of the Mayo Clinic’s Healthy Living Program. Fortunately, it can be reversed fairly easily with vitamin pills or injections.

What is considered severe B12 deficiency?

Patients with B12 levels between 200 and 300 pg/mL are considered borderline, and further enzymatic testing may be helpful in diagnosis. Patients with B12 levels below 200 pg/mL are considered deficient.

What is the treatment for methylmalonic acidemia?

Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation.

What are the causes of methylmalonic acidemia?

Isolated methylmalonic acidemia is caused by changes in one of five genes: MMUT, MMAA, MMAB, MMADHC, or MCEE. Methylmalonic acidemia with homocystinuria is caused by mutations in the MMADHC, LMBRD1 and ABCD4 genes. Other forms of methylmalonic acidemia are caused by changes in different genes.

What are the long-term complications of methylmalonic acidemia?

Some subtypes of methylmalonic acidemia respond to vitamin B12. [3] Long-term complications can include growth delay, intellectual disability, kidney disease, and pancreatitis. [4]

What are the treatment options for neonatal hyperammonaemia in methylmalonic aciduria?

Yap S, Leong HY, Abdul Aziz F, et al. N‐Carbamylglutamate is an effective treatment for acute neonatal hyperammonaemia in a patient with methylmalonic aciduria. Neonatology 2016;109(4):303‐307. 10.1159/000443630. [ PubMed] [ CrossRef] [ Google Scholar] 38.