Pku s CREENING F Ahmadbadi Child neurologist ARUMS

Pku s. CREENING F. Ahmadbadi Child neurologist ARUMS

Objectives Epidemiology of PKU in Iran and world Definitions and types Biochemical view Clinical Manifestations Diagnosis Screening Treatment

Epidemiology & Genetic Prevalence: 1/6000 -1/10000 Brazil, china, Lativa: 1/20000 AR transmission F=M In a study in Shiraz 1/4700 2 -3% of causes of MR s

Definition: Ph A level more than 6 and Tyrosine low than 5 Types of PKU 1. Classic 2. Malignant(2% of cases) 3. Transient phenylalaninemia

Phenylketonuria Phenylalanine Phenyl ketones Tyrosine

BH 4 is necessary for: Tryptophan Tyrosine Serotonin Hydroxylation Dopamine

Clinical manifestation Normal at birth Severe MR(IQ<30) Blound appearance Odor Microcephalia Seborroic dermatitis Dominant maxilla

Diagnosis Ferric chloride test(urin phenyl ketones) Guthrie test MS/MS Phenylalanin>6 mg/dlit(360 mic M) Thyrosin (low) Phenylalanine hydroxylase gene probe Screening test Diagnostic test

Ph. A Level <4 mg/dl Report ≥ 4 mg/dl Re check (Filter paper or Serum) HPLC >4 mg/dlit Under observe 6 mo-1 year And then Challenge test 4 -10 mg/dlit Under observe till 1 week & Ph. A Recheck 4 -7 mg/dlit ≥ 7 mg/dlit >10 mg/dlit Diet & Treatment <4 mg/dl Report

Specimen Collection

False Negative First days of life(1 -2) The false-negative rates ranged from 2% to 31% for the first day of life, but decreased to 0. 6% to 2% on the second day and to 0. 3% by the third day Technical errors Method Humidity Hemodialyse Exchange Transfusion NPO

False Positive In certain situations and population conditions, the ratio of false positives to true positives is as high as 32 to 1. 8 Buffy coat in sample Hemolysis Prematurity Liver diseases Tyrosinemia Renal diseases TMP-SMX Maternal PKU

Treatment Low phenylalanin Regimen (Phenylalanin 2 -6 mg/dlit) Treatment must start in first 7 -10 days of life. It must be continued till 10 -12 yrs old or even lifelong. In malignant PKU, Neurotransmitters are needed. (BH 4 -Dopamin_serotonine) Maternal hyperphenylallanenimia MR-Microcephallia. CHD

Lofenolac Comida(A, B, C) Xp-Analog Xp-Maxamaid Xp-Maxamum

Some drugs such as Farmentin have aspartame and thus not suitable for PKU cases Diet drinks (carbonated) have Aspartame.

With the Best Wishes