Page 1 of 1: PAEDIATRIC MEDICINE-NEONATOLOGY

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WHAT IS "GUTHERA'S TEST" IN Paediatrics ?

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is it guthrie's test?
used for screening phenylketonuria in infants.
check any standard text book of pediatrics

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

thankx eradication.

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It is bacterial inhibition assay of Guthrie, which detects presence of abnormal urinary metabolites of phenylalanine in blood.

more about phenylketonuria...

Inheritance: AR

unutilized phenylalanine is degraded via tyrosine pathway. deficiency of phenylalanine hydroxylase or its cofactor tetrahydrobiopterin causes accumulation of phenylalanine in body fluids & CNS. in affected infants, at plasma levels more than 20 mg%, excess phenylalanine is metabolised to phenylketones(phenylpyruvate, phenyllactate & o-hydroxyphenylacetate) are excreted into urine, so called phenylketonuria..

Classic PKU:

when phenylalanine plasma concentration >20 mg/dL

C/F:

infant is normal at birth
vomiting, may be severe
irritability & tremors
older untreatd children become hyperactive with purposeless movements, rhythmic rocking & athetosis
O/E lighter in complexion than unaffected siblings
blond hair & blue iris
may have seborrheic or eczematoid rash, mild, disappears as grows older
unpleasant odour of phenylacetic acid, described as musty or mousy
most are hypertonic with hyperactive DTRs
25% have seizures
Microcephaly, prominent maxilla with widely spaced teeth & enamel hypoplasia
Growth retardation

Milder forms of phenylalaninemia:

plasma concentration are >2 mg/dL, but <20 mg/dL

these are usually asymptomatic, but progressive brain damage occurs gradually.

Diagnosis:

Neonatal screening by Guthrie test, now being replaced by fluorometric & tandem mass spectrometry.

with those with positive screening, quantitative measurement of plasma phenylalanine
blood phenylalanine in affected infants may rise to diagnostic levels as early as 4 hrs after birth in absence of protein feeding.

also identification of phenylketones in urine by ferric chloride

blood tyrosine levels >5 mg/dL

Treatment:

Phenylalanine-restricted diet is recommended in those with plasma levels >6 mg/dL
adequate intake of tyrosine should be ensured
duration of therapy is controversial, but currently recommended for life-time..

cofactor BH4 given orally to those with milder froms reduces plasma phenylalanine levels significantly

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

PARIN.
ONE PERSONAL QUESTION.
R U A PAEDIATRICIAN?
U R SO METICULOUS.
GREAT.
THANKS A LOT.

parin · Credits: 14540 My Scrapbook My Reading List 1 Books

Me & paediatrician? hahaha.....

I m an intern, Jayanta.. n preparing for AIPGE only....

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

AN INTERN WITH SUCH VAST KNOWLEDGE

SO WHAT WILL HAPPEN WHN U WILL BE A PAEDIATRICIAN

parin · Credits: 14540 My Scrapbook My Reading List 1 Books

Don't worry friend! I don't want to become a paediatrician!

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

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