Our baby girl Sabina, who was born on June 23, 1997 was diagnosed just a few weeks after she was born with D-2 hydroxyglutaric aciduria, one of the most rare and mysterious inborn errors of metabolism. So rare that only 8 children, affected by this disease in their neonatal period, have been described until now.
The medical world is ambivalent in their policy; they do not wish that someone else finds the cure(s), but they do not have the time (and funds maybe) to search themselves for a solution. So, as parents you are told to just wait and see what will happen to your child, and they expect you to just listen to them. However, how can a parent just sit and do nothing to help his child? At least we cannot.
IEM (inborn errors of metabolism) Family
Same
Diagnosis Message Board
Sabina's new homepage
After some weeks of hurt, the anger began to overrule. Now, we are determined to find out as much as we can about this metabolic disorder and maybe encourage scientists to find a cure. Although we feel that we are not quite helped by the physicians, we think something has to be done to stop this neuro-degenerative illness. We got really inspired after reading about "Lorenzo's Oil" and seeing the video. The beginning of the movie said:
"Life has meaning
only in struggle.
The difference between triumph or defeat is in the hands of the
Gods.
So let us celebrate the struggle...."
And this is what we will do, maybe not too much celebration, but indeed we will fight for our child's sake and for all the others who suffer from this mysterious illness.
The beginning of this struggle is INFORMATION. As so little is known, it is of utmost importance that all the information available is shared with other parents. I will try to get in touch with as many parents as possible. United it will be much easier to struggle with medical science.
I have discovered that many people have children with undiagnosed metabolic illnesses, which makes you wonder. So, although all the children affected by this metabolic disorder are different, you will find below a summary of symptoms (please note that mostly not all the symptoms are evident in one child, but the first three mentioned are quite common). As I believe that there should be more than 8 children affected by this organic aciduria, I think and hope that someone could be reading this and put two and two together.
SYMPTOMS:
ORGANIC ACID:
2-Hydroxyglutaric (2-HG) acid is a normal component of human urine (4-36 mmol/mol creatinine) and occurs in D and L configurations. The L-configuration seems to be more common and less severe than the D-configuration. However, The L-type seems to be more degenerative and has been described lately as one of the leukodystrophies-like diseases which attack white brain tissue. Which means that children affected with L-2 hydroxyglutaric aciduria will develop normally in the beginning and gradually or quite fast loose skills.
D-2-HG is an
intermediate in several metabolic pathways, which makes it very
difficult to find out which enzyme(s) is (are) missing. Research
would have an easier task if the reaction product which should
follow the D-2-HG was found.
If you click on
the button below, you will find a configuration of D-2-HG, which
has not yet been confirmed.
MEDICATION:
Anti-convulsants
Mostly,
Phenobarbital (Luminal) is started when infantile seizures are
noticed. We started with phenobarbital, but switched to
Diphantoine (Fenytoine, Epanutin, Dilantin), when our child
started to show apneas and bradycardias and was just sleeping the
whole day. Generally it is quite difficult to control the seizure
activity, perhaps due to the organic acid which is also evident
in the cerebrospinal fluid. From the literature we learned that
Valproic Acid as anti-convulsant therapy is CONTRA-indicated, as
its metabolism is supposed to interfere with those of D-2-HG and
GABA (gamma-aminobutyric acid)
Other medications which seem to be effective with some children are:
-Sabril or Vigabatrin
- Tegretol or Carbamazepine
MY THEORY ON THE
ACIDURIA
As an ignorant,
I have been thinking a lot about this organic aciduria, its
clinical manifestations, its possible pathways, etc. Over the
past few months I have developed my own theory, and until now, no
one has proven me wrong, please correct me if anyone should feel
I'm mistaking.
Having read
almost every report I could obtain, I discovered a few things.
The clinical manifestations of the disease differs in such an
extent, that one begins to wonder. Almost all children suffer
from seizures, which could be explained by the presence of the
acid in their cerebrospinal fluid. But, the rest of their
symptoms is so different between affected children (there are
children who could easily walk at one year, and others who do not
even respond to their environment). Furthermore, there is another
organic aciduria, called Glutaric Aciduria type II, where also
the same hydroxyglutaric acid is found in large amounts, and
where the symptoms of the affected children are somewhat mild.
So, I think that the acid is not the biggest problem these
children have. The problem would be the reaction product which is
missing. And as they have found until now three ways to produce
D-2-HG within the human body, there also should be three reaction
products. Maybe when the clinical manifestations are mild, the
product missing is not of extreme importance. This is just a
theory and has not been proven to be correct or incorrect. But
maybe someone can lead us further on this. Please feel free to
let us know your opinion
PHOTO OF SABINA
GENETICS.
..... to be continued
If you have questions, comments or
suggestions: 
me at: m.geerts@zonnet.nl
This page was last updated on 28-10-99