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Childhood-diseases

Question
Posted by: maturewoman | 2008/01/24

Q.

Ornithine transcarbamylase deficiency

Dear Dr,
Please help me clear up some misconceptions I have about the above illness (OTC). I lost a grandson (neonatal stage) 4 years ago to this illness. My daughter is now pregnant again and going though the motions to verify sex and then do a amnio to test for OTC, however on her visits it was mentioned that I had lost a son 22 years ago (also neonatal 5 days after birth), diagnosis was SIDS (Sudden infant death syndrome).
The doctors are now telling her that the possibility of my son also dying from OTC is great as my daughter is a carrier and I may be one too.
I did breast feed where my daughter did not. Would that have made any difference to the infant?
I have blamed myself for the death of my son for all these years, I need to now get closure on this and know the actual diagnosis.
Do you know what blood test would cost to determine if I am indeed a carrier of OTC.
Regards.

Expert's Reply

A.

Paediatrician

I am sure that you have read a lot about OTC which is a rare genetic metabolic disorder. Specifically the damage is done by the child's inborn inability to deal normally with proteins in the body which results in the lethal accumulation of a breakdon product called ammonia. Females are the carriers of this condition and you and your daughter need to be tested for this. It is highly possible that the death of your baby son so early in life many years ago was due to undiagnosed OTC. You need to see a geneticist.

The information provided does not constitute a diagnosis of your condition. You should consult a medical practitioner or other appropriate health care professional for a physical exmanication, diagnosis and formal advice. Health24 and the expert accept no responsibility or liability for any damage or personal harm you may suffer resulting from making use of this content.

3
user comments

C.

Posted by: MATUREWOMAN | 2008/02/04

Dear Me,

Thank you so much for your kind words and lovely poem. God bless.

Maturewoman

Reply to MATUREWOMAN
Posted by: Me | 2008/01/24

O'yes, read the bit under Genetics, last paragraph.

This poem was posted on the Parenting Forum a while ago, thought it was beautiful.

What Makes a Mother?
I thought of you and closed my eyes
And prayed to God today
I asked “What makes a Mother?”
And I know I heard him say.
“A Mother has a baby”
This we know is true
“But God can you be a Mother,
when your baby is not with you?”
“Yes, you can,” He replied
with confidence in his voice
“I give many women babies,
when they leave is not their choice.
Some I send for a lifetime,
and others for the day.
And some I send to feel your womb,
but there’s no need to stay.”
“I just don’t understand this God
I want my baby to be here.”
He took a deep breath and cleared his throat,
and then I saw the tear.
“I wish I could show you
what your child is doing today.
If you could see your child’s smile,
with all the other children and say…
“We go to Earth to learn our lessons,
of love and life and fear.
My Mommy loved me oh so much,
I got to come straight here.
I feel so lucky to have a Mom,
who had so much love for me.
I learned my lessons very quickly,
My Mommy set me free.
I miss my Mommy oh so much,
but I visit her every day.
When she goes to sleep,
on her pillow’s were I lay
I stroke her hair and kiss her cheek
and whisper in her ear.
‘Mommy don’t be sad today,
I’m your baby and I’m here.’”
“So you see my dear sweet ones,
your children are okay.
Your babies are born here in My home,
and this is where they’ll stay.
They’ll wait for you with Me,
until your lesson’s through.
and on the day that you come home
they’ll be at the gate for you.
So now you see what makes a Mother,
it’s the feeling in your heart.
It’s the love you had so much of
right from the very start
Though some on Earth may not realise,
you are a Mother
until their time is done.
they’ll be up here with Me one day
and know that you are the best one!”

Reply to Me
Posted by: Me | 2008/01/24

I am so sorry to hear about everything you and your family has been through. Don't blame yourself for your son's death, some things are just out of our control. I found the following article on wikipedia but I am sure you know most of it allready. Take care and hope all goes well with your daughter's pregnancy.

Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (OTCD), the most common of the urea cycle disorders, is a rare metabolic disorder, occurring in one out of every 80,000 births. OTC is a genetic disorder resulting in a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Symptoms
Like other urea cycle disorders, OTC affects the body's ability to get rid of ammonia, a toxic breakdown product of the body's use of protein. As a result, ammonia accumulates in the blood causing hyperammonemia. This ammonia travels to the various organs of the body including the brain, causing coma, brain damage and death.

Another symptom of OTC is a buildup of orotic acid in the blood. This is due to an anapleurosis that occurs with carbamoyl phosphate entering the pyrimidine synthesis pathway.

Ornithine transcarbamylase deficiency often becomes evident in the first few days of life. An infant with ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Other symptoms include irrational behavior (caused by encephalitis), mood swings, and poor performance in school.

In some affected individuals, signs and symptoms of ornithine transcarbamylase may be less severe, and may not appear until later in life. Some female carriers become symptomatic later in life. This can happen as a result of anorexia, starvation, malnutrition, or even (in at least one case) as a result of gastric bypass surgery. It is also possible for symptoms to be exacerbated by extreme trauma of many sorts, including, (at least in one case) adolescent pregnancy coupled with severe stomach flu.

Genetics
Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

In ornithine transcarbamylase deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so ornithine transcarbamylase deficiency causes neurological problems as well as eventual damage to the liver.

Ornithine transcarbamylase deficiency is an X-linked disorder caused by a number of different mutations. Since the gene is on the X chromosome, females are primarily carriers while males with nonconservative mutations rarely survive past 72 hours of birth. Half of those survivors die in the first month, and half of the remaining by age 5.

Treatment
Treatment includes a low-protein formula called keto-acid and sodium benzoate, a preservative, and another type of sodium, which binds to ammonia and helps eliminate it from the body. Some treatment includes a protein limited diet combined with a dietary supplement including arginine.

In cases of OTC where enzyme production is low or non-existent, treatment consisting of low-protein diet and dietary supplementation are inadequate. In these cases, liver transplant is a treatment option.

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