1/5. Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria.Cytogenetic karyotyping in mental retardation associated with physical dysmorphism has been regarded as the primary key for the classification of syndromes and other genetic disorders for the predisposition of neoplasia and other fatal diseases. Giemsa-banding of metaphase chromosomes in lymphocytes is a traditional and routine process for the identification of the chromosomal counterpart which can provide a clue for molecular investigation in the subject. An 8-year-old girl showed a diploid karyotype 46, XX, t(3;12) (p21-pter, q24.1-qter) in peripheral blood lymphocyte culture. Biochemical examination of urine labelled her as a case of phenylketonuria. The maternal karyotyping was similar and confirmed the maternal transmission of the translocation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Abnormal cerebral cortical neurons in a child with maternal PKU syndrome.A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures. He was found by his mother dead in bed at 4 months of age; general autopsy revealed klebsiella sepsis and pneumonia. Neuropathologic studies of the right cerebral hemisphere showed neuronal loss of the third cortical layer; Golgi studies revealed persistently immature cortical pyramidal cell somata and dendritic spines. This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and seizures seen in affected children.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. women with phenylketonuria: successful management of pregnancy and implications.Dietary management of five pregnancies in two women (sisters) with classical phenylketonuria (PKU) is described. One child died neonatally of congenital heart disease and one pregnancy miscarried. Of the three surviving children the only physically and mentally normal child, followed up to eight years, was born after a carefully planned pregnancy with strict dietary control preconceptually and throughout pregnancy. One pregnancy treated dietetically from six weeks gestation resulted in a child mentally normal at seven years but born with oesophageal atresia. The third surviving child is microcephalic and mentally retarded but dietetic treatment did not commence till 28 weeks gestation. It is concluded that to be effective, dietary control must be instituted preconceptually.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin.A patient with hyperphenylalaninemia caused by a defect in the synthesis of tetrahydrobiopterin was treated with 6-methyltetrahydropterin. This synthetic analog of the naturally occurring hydroxylation cofactor tetrahydrobiopterin, when given orally at a daily dose of 20 mg per kilogram of body weight increased depressed plasma and cerebrospinal fluid levels of norepinephrine. At a daily dose of 8 mg/kg, this pterin increased depressed cerebrospinal fluid levels of the biogenic amine metabolites dihydroxyphenylacetic acid, homovanillic acid, and 5-hydroxyindoleacetic acid. At these doses of 6-methyltetrahydropterin, there was an improvement of the patient's neurological symptoms, including a pronounced decrease in eye rolling and drooling and a marked increase in muscle strength, coordination, and physical activity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/5. RFLP discordance in a PKU family due to a deletion in the PAH gene.We have previously reported preliminary data on a PKU family showing a discordant segregation of Pvu II (b) alleles at the PAH locus. A combination of several restriction enzymes and probe C2.6 (Intron 2) as well as STR typing were used to dissect the molecular structure of the PAH gene around exon 3. In this family, the results of this analysis and a re-examination of the physical map of the 5'-end of the gene provided strong evidence for the occurrence of a deletion removing exon 3. The "Sicilian" (approximately 2.5 kb) and "Yemenite Jew" (6.7 kb) deletions, the latter one also deleting exon 3, are different in terms of both the 5'-end breakpoint and apparent length. This study, besides adding a new member to the long and increasing list of nearly 200 PAH gene mutations, also proposes to undertake a careful evaluation of RFLP discordances incidentally detected at the PAH locus.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |