Diagnostic and therapeutic implications of persistent hyperphenylalaninemia in an infant heterozygous for the gene of phenylketonuria

Screening for Inherited Metabolic Disease by Plasma Chromatography (Scriver) in a Large City

“…Normally none is seen, and in cases of phenylketonuria there was no doubt in the first test that the concentration was abnormally high. Less striking increases, associated with variant hyperphenylalaninaemia (Anderson et al, 1966;Schneider and Garrard, 1966;O'Flynn et al, 1967;Menkes and Holtzman, 1970), have been seen in only one case (Case 2, Table I). When the concentration of phenylalanine is suggestive of phenylketonuria arrangements are made by telephone with the family practitioner for quantitative studies to be made and the patient is normally referred to a paediatrician within 24 hours.…”

Aromatic Acids in Urine of Healthy Infants, Persistent Hyperphenylalaninemia, and Phenylketonuria, before and after Phenylalanine Load

“…The urine tests for aromatic acids (FeC13, DNPH, Phenistix) are usually negative and, with few exceptions (1,14,28,36), o-OH-phenylacetic acid as well as phenylpyruvic acid are not detectable by paper chromatography (12,17,29,30) or spectrophotometry (1). However, abnormal amounts of aromatic acids can always be demonstrated after a phenylalanine load (1,17,24,28,30,35,36). Most patients, whether o n or off a diet, perform within the average range of intelligence (3).…”

Phenylketonuria. Mass screening of newborns in Ireland.

“…Another cause of transient hyperphenylalaninaemia in the newborn is transfer of the amino acids across the placenta from a mother who, though normally intelligent, may be phenylketonuric (Mabry et al, 1963). In fact, recent work tends to suggest that a positive screening test serves only as a signpost to what may be a number of phenotypically and genotypically distinct conditions (Anderson et al, 1966;Schneider and Garrard, 1966;Auerbach et al, 1966;Scriver, 1967).…”