médicaments Liens

Carbaglu (médicaments potentiels pour le traitement de l'ammoniac élevée)

• Voir l'article en Août 2006 Bulletin.
• NUCDF – Cure potentiel de déficit en NAGS

Carnitine – regarde aussi Sites d'intérêt supplémentation

• Carnitor, Sigma Tau
• L-carnitine augmente l'excrétion de la propionyl-coenzyme A

motilité intestinale

• motilité intestinale

Emergency Room lettre présentée par le Dr. Barbara Burton

• Blueprint Genetics
• Emory Laboratoire de génétique
• GeneDx, Inc.
• Tests de gènes – Test PCCA
• Tests de gènes – Test PCCB
• PreventionGenetics

Quelques raisons de références peuvent inclure: la confirmation d'un diagnostic, test de support, Conseil génétique, ou le diagnostic prénatal dans les grossesses à risque. Si vous avez un enfant avec acidémie propionique, le risque de chaque grossesse supplémentaire est 1:4 que le bébé aura acidémie propionique. Il est plus facile de détecter PA in utero, quand vous savez que la mutation. Vous pouvez également consulter les frères et sœurs et autres parents pour voir si elles sont porteuses d'un gène défectueux.

Vous pouvez visiter Genetics Home Reference pour un glossaire des termes inconnus:

Genetics Home Reference Glossaire

Prenatal Diagnosis Papers

• Prenatal Diagnosis of propionic acidemia – JAMA
• Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
• Prenatal diagnosis of propionic acidemia.
• Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
• Prenatal Diagnosis of propionic acidemia by measuring methylcitrtic acid in dried amniotic fluid on filter paper using GC/MS.

• March of Dimes on Newborn Screening
• National Newborn Screening & Genetics Resource Center
• Newborn Screening Message Board
• Newborn Screening: Toward a Uniform Screening Panel and System > Report for Public Comment
• Save Babies through Screening Foundation, Inc.
• STAR-G About Expanded Newborn Screening

When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”

“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”

But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.

The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”

And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.

But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.