This study will help us devise protocols for sample collection and workup of suspected IMDs that is beneficial for prompt interpretation and diagnosis of cases especially those demanding detection or exclusion thereof of organic acidemias
Cases with very small peaks of methylmalonic acidemia
(MMA) compared to internal standard, on UOA chromatograms were excluded.
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
. Biochemistry 1998;37:10325-35.
While there does not appear to be a direct relationship between metformin and thermoregulation, it has been hypothesized that hypothermia in cases of severe MALA may be a consequence of systemic vasodilation, which is induced by acidemia
Prior to the time of his listing a cadaveric liver graft offer had already been given to the child with propionic acidemia
and no other suitable grafts were available.
In a prospective cohort of more than 3,000 women with category II tracings, the presence of meconium--especially thick meconium --was associated with a higher risk of acidemia
and neonatal morbidity than was the absence of meconium.
To our knowledge, we are the first to publish pre- and postintubation blood gas data in the context of ventilator settings that should have resulted in hyperventilation and improving acidemia
These cutaneous lesions have been described during treatment of aminoacidopathies (MSUD) [4, 5] and organic acidemias
, glutaric aciduria, and propionic acidemia
) [6, 7] due to deficiency of isoleucine.
Predictors of mortality are comorbidities, severe acidemia
at presentation (arterial blood pH < 7.0), development of coma, or fever .
Cox et al., "Impaired health-related quality of life in children and families affected by methylmalonic acidemia
" Journal of Genetic Counseling, vol.
A 31-year-old Japanese man with propionic acidemia
undergoing total parenteral nutrition presented with a high fever (39.5[degrees]C) after routine hemodialysis at his regional hospital.
Se ha sugerido el conteo de globulos rojos nucleados como marcador de hipoxia fetal intrauterina aguda--cronica y como predictor de resultante neonatal adversa (bajo puntaje de Apgar, acidemia
neonatal y convulsiones neonatales de aparicion temprana) (4-7).