1. E. Secundária / 3 Quinta das Palmeiras - Covilhã
Ciências Naturais

2. Hereditary illness of the metabolism of amino
acids of ramified chain
 recessiva autossómica illness.
 prevalence 1:185.000. M=F
 accumulation of 3 amino acids
 gradual neurological illness
 precocious diagnosis with nutricionais alterations

3. Model of recessiva autossómica
transmission

5. Classic form
RN of term, perinatal childbirth/without alterations. Clinic 4 - 7 days of life.
Alimentary If it will not be treated
It is presented habitually
in the first week of life. refusal Vomits conveniently Leads:
Soluços death
Alt. neurological
Hipotermia
Coma

6.  Precocious diagnosis (< 10 days of life)
 intensive Treatment adjusted
 Control of the metabolic descompensations
 Reduction of the cerebral injuries and mortality

7. Diagnostics
 Test in the blood
 Test in piss

8. Tracing
 Test of pezinho (diagnostic precocious)
 Diagnostic Native Daily pay (during the
pregnancy)

9. Treatment
 To diminish or to suspend foods with animal
proteins
 To make a special feeding
 To prevent the contact with the infection
 To prevent jejum drawn out

11. Treatment - long stated period
 metabolic control
 To ingest proteins to continue to
grow.

12. Treatment - metabolic descompensações
 Infections
 vaccines, Attention to the
 vomits, sleepiness, appetite
 diarreia, loss, alterations of the
behavior, balance and the
 anesthesia
aspect and I smell of piss
 surgery.

13.  Necessity of many consultations
 Necessity of many analyses
 Necessity of many examinations
 Necessity to keep the diet for all the life

15.  www.aproten.it
 www.sanavi.com
 www.shsna.com
 www.dhn.fr
 Instituto de Genética Jacinto Magalhães
 http://pkumetabolicas.blogspot.com