type 1 - GA1, isovaleric acidaemia
and long chain fatty acidaemia
are metabolic conditions which each affect one in 100,000 children.
5) However, if acidaemia
is severe, the AG may actually drop by up to 4 mmol/l as a result of an increment in the net cationic charge of proteins.
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia
and methylmalonic acidaemia
Arterial blood gas measurements revealed a profound metabolic acidaemia
with high lactate levels; pH of 7.
Management of methylmalonic acidaemia
by combined liver-kidney transplantation.
Jack, who lived with his family in Harperley Gardens near Stanley, County Durham, was born with the rare genetic disorder methylmalonic acidaemia
The tiny battler suffers with a condition called propionic acidaemia
Presence of acidaemia
was associated with the need for invasive ventilation (pless than 0.
3%) patients were found to have acidaemia
2]) of more than 50 mmHg; and (iv) significant respiratory acidaemia
It is one of the cerebral organic acidaemia
, which lacks general metabolic derangements like hypoglycaemia, metabolic acidosis or hyperammonaemia seen in inherited metabolic disorders presenting with metabolic decompensation.
Factors which increase susceptibility have been extensively reviewed elsewhere (12) and include older age, lower weight, pregnancy, organ dysfunction, hypoxia, acidaemia
and possibly epilepsy.