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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
Introduction
Classic form
RN of term, perinatal childbirth/without alterations. Clinic 4 - 7 days of life.
It is presented habitually in the first
week of life.
Alimentary refusal Vomits
Soluços Alt. neurological
Hipotermia Coma
If it will not be treated conveniently Leads:
death
Precocious diagnosis (< 10 days of life) intensive Treatment adjusted Control of the metabolic descompensations Reduction of the cerebral injuries and mortality
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
Treatment - metabolic descompensações
Infections vaccines, vomits, diarreia, anesthesia surgery.
Attention to the sleepiness, appetite loss, alterations of the behavior, balance and the aspect and I smell of piss
Necessity of many consultations
Necessity of many analyses
Necessity of many examinations
Necessity to keep the diet for all the life
www.aproten.it www.sanavi.com www.shsna.com www.dhn.fr Instituto de Genética Jacinto Magalhães http://pkumetabolicas.blogspot.com
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