Auxiliary liver transplant is proposed for liver-based metabolic defects
that do not structurally damage the liver such as CNS I, urea cycle defects, and familial hypercholesterolaemia.
However, since 1965 there was increasing doubt that this hypothesis was correct, and suggestions were made that the primary metabolic defect
in HRT is something other than a lack of 4-HPPD.
Diabetes is not a single homogenous entity, but a heterogeneous syndrome of metabolic defects
, some causative, others associations.
A total of 71 features differentiated PA from MMA, a finding that is quite remarkable given the very close proximity of the 2 metabolic defects
We expect that measuring sugar phosphate intermediates of the PPP will lead to more insight into the possible metabolic defects
of patients who accumulate polyols.
He makes the unorthodox suggestion that sweets may represent a behavior-enhancing compensation for a metabolic defect
in some delinquents.
However, no abnormal resonances that may be indicative for the underlying metabolic defect
could be observed.
It appears likely, therefore, that the 5-oxoprolinuria demonstrated in our patient was attributable to a metabolic defect
at some stage in the [gamma]-glutamyl cycle and that this resulted in the biochemical and clinical findings.
Combination of gene therapy and hepatocyte (HEP) transplantation is a promising alternative to LT, correcting the metabolic defect
while keeping in place the normal native liver.
The data also suggested that the extent and severity of the metabolic defect
detected by BMIPP was similar to that identified by thallium blood flow imaging.
Currently, liver transplantation is the only effective known treatment to correct the metabolic defects
This observed mismatch between perfusion defects and metabolic findings and metabolic defects
suggests the possibility of up-regulation of the glucose receptors to compensate for diminished perfusion.
17 Reagents for the Laboratory of Metabolic Defects
, including the lease of the reader
Vitamin C deficiencies and other metabolic defects
have been suggested as possible causes of HOD, but no research to date supports this.
This research project should also investigate assessing those common genetic and metabolic defects
that could render individuals even more susceptible to the harmful effects of lead.