Hello! Big to you thanks for answers to my questions on izovalerianov...

[Natasha]

Hello! Big to you thanks for answers to my questions on izovalerianovoj acidemias. Here last question: whether it is necessary physical inability to the child on this genetic disease and if yes by what normative documents it is regulated? Earlier we had a diagnosis " an epilepsy, polymorphic attacks, refractory or resistant to therapy, ZPR ", under this diagnosis there was a physical inability, but now re-examination, and at us in ours suppress or stop anybody about such genetic disease did not hear. PHYSICAL INABILITY wish to remove or take off, though with the child an epilepsy and ZPR have remained, but only it or her have written down as secondary symptomatic and on her to issue physical inability cannot any more. Whether really on genetic disturbances aminokislotnogo an exchange give physical inability? In advance I thank.

[Natasha]

Small addition - at us besides izovalerianovoj acidemias it is diagnosed mitohondrialnaja entsefalomiopatija (on the basis of a clinical symptomatology and set of analyses). Whether they can c with each other? What forecast? Whether give on this disease physical inability?

[Talanova E.J.]

One question - and WHERE diagnosed? On the basis of what analyses and a symptomatology?
As to physical inability, a question complex or difficult - at everyone VKK the follies, especially if not in Moscow. And this question, alas, in charge of not vracha-genetics, and any "manager" from oblzdravotdela, for example...

[Natasha]

About where diagnosed - esteem my report: Natasha on December, 07th 2000 23 : 14 : 55
And from a clinical symptomatology at the moment of statement of the diagnosis - an epilepsy with polymorphic attacks, a delay psiho-speech development, an organic aciduria (it is revealed by a method hromato-mass-spectrometries, considerably amplifies at an albuminous load with connection epipristupov and vomitings) mainly izovalerianovoj k-you, lactic acid, izovalerilglitsin and ketonovyh derivatives, laktat-an acidosis, the raised or increased maintenance or contents in bloods of fat acids, hyperactivity mitohondrialnyh enzymes, a ketosis, a hypoglycemia, muscular delicacy, a unusual strong smell wet them (as seven-day nosok), a right-hand hemiparesis of an easy or a light;a mild degree, atsetonemicheskie vomitings. Yes, by the way, can, you know where to get an albuminous hydrolysate without Leucinum? To us have advised a strict protein-free diet plus this hydrolysate even initially to deduce or remove the child from this status. And I cannot find something in Russia. In America precisely is, in the Europe too. But as this all to get here - I do not know.

[Nekrasova N.J.]

1. Not always the list of the diseases which are a subject veneering of physical inability, contains the information on all diseases, especially in the regional commissions. In such cases sometimes after the "unknown" diagnosis it is written, for example: an organic aciduria... Accompanied by an epilepsy and ZPR, or... .projavljajushchajasja an epilepsy. Because an epilepsy and VPR in your case - not accompanying diseases, and displays of the core.
2. Izovalerianovaja the acidemia is caused by a mutation mitohondrialnogo genoma, therefore in any degree, she is mitohondrialnoj an encephalomyelopathy (this abbreviation oznachet, that the brain and muscles suffers). Thus, most likely, mitohondrialnaja the encephalomyelopathy is display izovalerianovoj acidemias.

[Natasha]

C for explanations! Our pediatrist very much will be delighted.