E. Secundária / 3 Quinta das Palmeiras - CovilhãCiências Naturais

MSUD

Catarina 9ºa nº2

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

Model of recessiva autossómica transmission

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

Diagnostics

Test in the blood Test in piss

Tracing

Test of pezinho (diagnostic precocious)

Diagnostic Native Daily pay (during the

pregnancy)

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 - long stated period

metabolic control To ingest proteins to

continue to grow.

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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