was defined as pH < 7.20 on the arterial blood samples obtained from the umbilical cord at birth.
Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia
. J Inherit Metab Dis 2008;31:368-78.
Treatment of hydroxocobalamin resistant methylmalonic acidaemia
, defined as a base deficit of >12 mmol/L, has been associated with episodes of intrapartum asphyxia and has therefore been used to define asphyxia biochemically.
Matthew Hitchen, two, had a genetic disease called methylmalonic acidaemia
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia
type 1 and isovaleric acidaemia
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia
Jack was born with the rare genetic disorder methylmalonic acidaemia
, which prevents the body from processing certain proteins and can have serious health implications for sufferers.
The Newborn Blood Spot Screening Programme has been extended from January 5, to screen for an additional four rare, but potentially disabling, conditions which are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia
From early next year, 'heel prick' blood samples taken from newborn babies will be tested for four additional metabolic disorders - glutaric aciduria type 1, homocystinuria, isovaleric acidaemia
and maple syrup urine disease.
In the clinical scenario of LAST with cardiac arrest or severe hypotension, patients frequently have associated acidaemia
. As such, we felt it would be important to explore lipid binding to LAs within an acidaemic environment, to more closely replicate the likely clinical state.
Gunn, "Antecedents of neonatal encephalopathy with fetal acidaemia
at term," British Journal of Obstetrics and Gynaecology, vol.
It was found that those who required such interventions had some sort of intrauterine hypoxia.Hypoxia and acidaemia
, both of which are powerful pulmonary vasoconstrictors prevent the normal postnatal changes in circulation.
Hypercapnia and acidaemia
shifts the haemoglobin-oxygen dissociation curve rightwards augmenting the tissue release of oxygen (14).
(1-3) Furthermore, our experience has shown that whereas propionic acidaemia
(PA) is frequently encountered across all population groups, isovaleric acidaemia
(IVA) is mostly confined to Afrikaners.