Results 161 to 170 of about 7,812 (191)

Methylmalonic acidemia

European Journal of Pediatrics, 1978
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration.
I, Matsuda, T, Terashima, J, Yamamoto, I, Akaboshi, S, Shinozuka, S, Hattori, N, Nagata, Y, Oka   +7 more
openaire   +2 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

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

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

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

Methylmalonic Acidemia and Propionic Acidemia

2005
Abstract This chapter discusses methylmalonic acidemia and propionic acidemia, including clinical features, biochemical abnormalities, factors to be considered in nutritional evaluation and treatment, dietary management, other treatments, monitoring, and long-term outcomes.
openaire   +1 more source

Observations on the coexistence of methylmalonic acidemia and glycinemia

The Journal of Pediatrics, 1969
Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities.
G, Morrow, L A, Barness, V H, Auerbach, A M, DiGeorge, T, Ando, W L, Nyhan   +5 more
openaire   +2 more sources

Recent Advances in the Inherited Methylmalonic Acidemias

Acta Paediatrica, 1987
Methylmalonic acidemia results from decreased activity of methylalonyl‐CoA mutase, an enzyme required for the catabolism of four amino acids. A cobalamin (vitamin B12) compound is required as coenzyme. Several inherited mutations of the mutase apoenzyme or of cobalamin coenzyme synthesis have been identified.
M J, Mahoney, D, Bick
openaire   +2 more sources