Results 121 to 130 of about 11,139 (183)

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

Acute Illness Protocol for Organic Acidemias

Pediatric Emergency Care, 2017
AbstractInborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting.
Saud H, Aldubayan, Lance H, Rodan, Gerard T, Berry, Harvey L, Levy   +3 more
openaire   +2 more sources

The Neuropathology of Propionic Acidemia

Developmental Medicine & Child Neurology, 1983
SUMMARYThe neuropathology in two biochemically documented cases of propionic acidemia is presented. While spongiform changes in white matter were seen in the infant who died at 12 days, no such changes were evident in an older patient who died at age 23 months.
L, Steinman, R R, Clancy, H, Cann, H, Urich   +3 more
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Organic Acidemias

Clinics in Perinatology, 1976
Inherited organic acidemias are a group of metabolic disorders currently being described and investigated as gas-liquid chromatography is applied to unexplained diseases of infancy and childhood. Common clinical presentations include attacks of ketoacidosis, unexplained metabolic acidosis, failure of normal development, seizures, and other neurologic ...
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The Pancytopenia of Isovaleric Acidemia

Pediatrics, 1980
Severe pancytopenia developed in two infants with isovaleric acidemia. Previous reports indicate these hematologic abnormalities are a leading cause of death in affected infants. Our findings suggest that the pancytopenia may be due to arrested maturation of hematopoietic precursors.
J F, Kelleher, M, Yudkoff, R, Hutchinson, C S, August, R M, Cohn   +4 more
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Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD)

Brain and Development, 1994
The charts of 16 patients with branched chain amino acidemia (MSUD) who had 48 emergency room (ER) visits, of 10 patients with propionic acidemia (PA) who had 57 ER visit, and of 13 patients with methylmalonic acidemia (MMA) who had 154 ER visits, were reviewed retrospectively for the most common clinical presentations, physical and laboratory findings.
H, Henriquez, A, el Din, P T, Ozand, S B, Subramanyam, S I, al Gain   +4 more
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.
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Organic Acidemias

Pediatrics In Review, 2022
Laura L, Guilder, Jonathan B, Kronick
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Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia

2015
Infants with propionic acidemia (PROP) or methylmalonic acidemia (MMA) can be identified by newborn screening, although those with severe phenotypes may present with symptoms of metabolic ketoacidosis before screening results are available. Nutrition management of PROP or MMA involves limiting intact protein and providing a medical food free of ...
openaire   +1 more source