David B. Flannery

Glycinelserine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia

A series of 183 amniotic fluid samples from pregnancies with normal outcome were examined to assess the validity of the glycine/serine ratio in the prenatal diagnosis of nonketotic hyperglycinemia. The glycine/serine ratios in our series span a range of values which includes those of the previously reported control group as well as those values of a fetus with nonketotic hyperglycinemia. These data indicate that the glycine/serine ratio in the amniotic fluid of a pregnancy at risk for nonketotic hyperglycinemia is not a reliable indicator for the prenatal diagnosis of this disorder.

Transient infantile osteopetrosis

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Amino acids in amniotic fluid in the second trimester of gestation.

ABSTRACT.: The concentrations of amino acids in amniotic fluid have been used in the prenatal diagnosis of several inherited metabolic disorders. However, previous studies have usually examined only a small number of control amniotic fluid samples. We have, therefore, measured the amino acids in amniotic fluid samples from 183 normal pregnancies between the 13th and 23rd wk gestation of women ranging in age from 17 to 43 yr. The concentrations of Ala, Lys, Val, Glu, Pro, Thr, and Gly, in descending order, accounted for about 70% of the amino acids in amniotic fluids. A negative correlation with gestational age (-0.34 to -0.24) was found for Leu, Val, Ile, Phe, Lys, Ala, Asp, Tyr, Glu, and Pro, with Leu showing the greatest rate of change. The concentration of Gin increased slightly (r=0.18), whereas the other amino acids did not change significantly during this period. Statistically significant positive correlations, at all gestational ages, were observed among Val, Leu, and Ile. These branched-chain amino acids also correlated positively with Phe, Lys, Asp, Thr, Ser, Glu, Pro, Gly, Ala, and Tyr, and the amino acids within this group correlated with each other. Additionally, strong positive correlations were observed between Phe and Tyr and between Gly and Ser. No significant correlations were found between any of the amino acids and maternal age or fetal sex. Significant positive correlations between amino acids may be indicative of common transport or degradative pathways and suggest that maintenance of specific relative concentrations in amniotic fluid may be essential for normal fetal development. These data provide normative values for evaluating abnormal amino acid concentrations or ratios, which will be useful for studying their possible role as teratogenic agents as well as for the prenatal diagnosis of specific inborn errors of metabolism.

Dietary management of phenylketonuria from birth using a phenylalanine-free product

A RESTRICTED PHENYLALANINE diet is the mainstay of therapy of phenylketonuria. Intellectual outcome is excellent if treatment is initiated in early infancy and serum PA concentrations are maintained <10 mg/dlJ The dietary management of PKU in infants relies on the use of a low PA-containing formula base, Lofenalac (Mead Johnson, Evansville, IN), which is produced by the hydrolysis of casein and contains 0.8 mg PA per gram powder. To our knowledge, the use of a PA-free product in the dietary treatment of PKU in patients younger than 2 years has not been reported, and it is not yet recommended for use in this age group. Since 1979, the Virginia State PKU program has used Phenylfree (Mead Johnson), a PA-free formula base, in the management of PKU in infants. We report a retrospective analysis of the experience with the first eight patients in this program who were given the PA-free product from the time of diagnosis.

Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes.