Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life.

[phenylketonuria]

Influence of hyperphenylalaninemia on lipoproteins in early life remains unclear .We enrolled 24 phenylalanine hydroxylase (PAH )-deficient children who were classified into a phenylketonuria (PKU ) group (n =12 ) lacking PAH activity and a benign hyperphenylalaninemia (HPA ) group (n =12 ) having partial PAH activity , and their 11 non-affected siblings . We measured serum total -cholesterol , low -density lipoprotein (LDL )-cholesterol , and high -density lipoprotein (HDL )-cholesterol levels together with apolipoproteins for the first year of life , and compared them with those of 30 age-matched healthy controls .The affected groups invariably had lower cholesterol levels than non-affected groups . At birth , HDL-cholesterol decrease was greatest and predominated over the LDL-cholesterol decrease : total cholesterol , 28 /36 % decrease to the control level in HPA /PKU ; HDL-cholesterol , 33 /51 %; LDL-cholesterol , 20 /28 %. At 3 months , the opposite changes were observed : total cholesterol , 16 /28 %; HDL-cholesterol , 13 /23 %; LDL-cholesterol , 16 /33 %. At 12 months , LDL were still significantly lower in both groups (8 /18 %, p <.05 and .001 ), although HDL was significantly decreased only in the PKU group (15 %, p <.05 ). Apolipoprotein A-I /A-II and B changed respectively in accordance with HDL-cholesterol and LDL-cholesterol changes . Despite similar phenylalanine levels , the PKU group invariably had lower cholesterol concentrations than the HPA group had .Irrespective of phenylalanine concentrations , lipoprotein synthesis in PAH -deficient children , particularly in PKU children , was suppressed in early life .

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Diseases presenting "deficient children" symptom

phenylketonuria

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