Results 121 to 130 of about 2,810 (170)

Cardiac Disease in Methylmalonic Acidemia

Journal of Pediatrics, 2011
Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
Edwin P. Kirk, Carlos E Prada, Fatma Al Jasmi   +2 more
exaly   +3 more sources

Neuropathology of Methylmalonic Acidemia in a Child

Pediatric Neurology, 2006
Methylmalonic acidemia is a rare disease, and its neuropathology in childhood has been rarely reported. A 3-year-old male with vitamin B12 nonresponsive type of methylmalonic acidemia developed repeated attacks of acidemia associated with common cold since neonatal age.
Takeshi, Kanaumi, Sachio, Takashima, Shinichi, Hirose, Toshikatsu, Kodama, Hiroshi, Iwasaki   +4 more
openaire   +2 more sources

Renal Growth in Isolated Methylmalonic Acidemia [PDF]

Genetics in Medicine, 2013
We sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease.Fifty patients with methylmalonic acidemia, followed from 2004 to 2011, were classified by molecular genetics and studied using a combined cross-sectional and ...
Charles P Venditti, Jeffrey B. Kopp, Irini Manoli   +2 more
exaly   +3 more sources

Juvenile gout in methylmalonic acidemia

Pediatrics International, 2016
AbstractMethylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl‐CoA mutase or a defect in adenosyl‐cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia.
Sirirat, Charuvanij, Anirut, Pattaragarn, Wanee, Wisuthsarewong, Nithiwat, Vatanavicharn   +3 more
openaire   +2 more sources

Methylmalonic Acidemia

2017
Isolated methylmalonic acidemia (MMA) refers to a group of inborn errors of organic acid metabolism caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA. Individuals with MMA experience both acute and chronic neurological complications. The pathophysiology likely reflects impaired energy metabolism in the mitochondria leading to neuronal ...
Siddharth Srivastava, Jeffrey Chinsky
openaire   +1 more source

Pancytopenia in a patient with methylmalonic acidemia

Blood, 2015
![Figure][1] A 4-year-old girl with a known history of methylmalonic acidemia (MMA) complicated by acquired hypothyroidism, failure to thrive, and developmental delay developed pancytopenia during an admission for emesis and metabolic acidosis.
Suzanne, MacFarland, Helge, Hartung
openaire   +2 more sources

Prenatal detection of methylmalonic acidemia

The Journal of Pediatrics, 1970
Summary The case report of a pregnant woman heterozygous for methylmalonic acidemia is presented. The fetus was suspected of having the disease prenatally because of increasing amounts of methylmalonate in the maternal urine and in amniotic fluid during the third trimester. After birth the diagnosis of methylmalonic acidemia was confirmed in the child.
G, Marrow, R H, Schwarz, J A, Hallock, L A, Barness   +3 more
openaire   +2 more sources

Tubulointerstitial nephritis in methylmalonic acidemia

Pediatric Nephrology, 1993
We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously reported as the presentation of renal disease in MMA.
S L, Rutledge, M, Geraghty, E, Mroczek, D, Rosenblatt, E, Kohout   +4 more
openaire   +2 more sources

Methylmalonic acidemia and kidney transplantation

Pediatric Nephrology, 2013
[No abstract available]
LUBRANO, Riccardo, Belen Perez, Marco Elli   +2 more
openaire   +3 more sources

Studies in a patient with methylmalonic acidemia

The Journal of Pediatrics, 1969
The biochemical and therapeutic responses in a patient with methylmalonic acidemia unresponsive to vitamin B 12 are discussed. Hypooxaluria, hypoglycemia, hyperammonemia, and aberrant amino acid patterns were components of this patient's disorder. A decrease in methylmalonyl isomerase activity appears to be the most likely site for the defect. Various
G, Morrow, L A, Barness
openaire   +2 more sources