van 't HoffW G, Dixon M, Tayolr J, et al C ombined liver-kidney transplantation in methylmalonic acidemia
It took them seven years to find out that Elnnaz, now 13, is suffering from methylmalonic acidemia
(MMA), a rare hereditary disorder where patients have difficulty breaking down and using certain amino and fatty acids from the food they eat.
Elnaz Zein Ali, an Iranian whose 13-year-old daughter suffers from Methylmalonic Acidemia
(MMA) said dealing with the disease has been extremely difficult for his family.
Non-ketotic hyperglycemia, propionic aciduria, methylmalonic acidemia
, D-glyceric acidemia, sulfite and xanthine oxidase deficiency, Menkes disease and Zellweger syndrome are the main metabolic disorders which are known to cause this disease.
Severe neutropenia in an infant with methylmalonic acidemia
A broad variety of defects in vitamin B12 processing, known as cobalaminopathies, can lead to disorders with a biochemical overlap with methylmalonic acidemia
A wide range of genetic conditions was represented in the study population, such as metabolic disorders, proprionic acidemia, methylmalonic acidemia
, arginosiccinic acidemia; and Lesch-Nyhan syndrome, Schinzel-Giedion syndrome, tuberous sclerosis, Down syndrome, and fragile X syndrome.
She has methylmalonic acidemia
which is a protein deficiency and was first diagnosed when she was eight months old.
Instead of ethylene glycol poisoning, the child was found to suffer from a rare genetic disease, methylmalonic acidemia
However, upon the birth of a second baby, doctors found that the infant had a rare disease, methylmalonic acidemia
, which in fact, had caused the death of the first child.
Diagnosed with methylmalonic acidemia
(MMA), a severe metabolic disorder, the baby recovered when treated for a deficiency of camitine, the essential amino acid he was unable to metabolize because of a genetic disorder.
A double-transplant surgery on the youngest child to ever receive a new kidney and liver as treatment for methylmalonic acidemia
, a deadly metabolic disorder