Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria

To evaluate physical growth, development and nutritional status in adults with previously undiagnosed/ untreated phenylketonuria [PKU]. Four hundred adults [201 females and 199 males] with severe intellectual disability who were born prior to compulsory neonatal screening [before 1976] and who resided in social welfare homes in southeastern Poland were screened for PKU. The screening was performed by blood test using a tandem mass spectrometry method [MS/MS] and was confirmed by analysis of organic acids in urine. Eleven were identified as previously undiagnosed and/or Untreated PKU cases. They underwent an assessment of their somatic development/status. Among the 11 PKU patients [4 females and 7 males] the following characteristics were observed: poor physical growth after somatic development [n = 8,2 females aged 23 and 56 years and 6 males aged 28-59 years]; decreased head circumference - microcephaly [n = 5,1 female aged 56 years and 4 males aged 28-59 years]; poor body height [n = 2, 1 female aged 23 years and 1 male aged 59 years]; poor thoracic circumference [n = 9, 3 females aged 23-56 years and 6 males aged 28-59 years]. Overall, body weight imbalance was noted in 9 [81.8%] patients and irregularity of body proportions in 6 [54.5%] patients. Our data showed the importance of nutritional surveillance and impact of metabolic imbalance on physical growth and body stature in untreated PKU patients. We therefore recommend an adequate and individually planned introduction of dietary intervention among that group of patients in order to ameliorate its nutritional status, general fitness and health

Malonylcarnitine in newborns with non-syndromic cleft lip with or without cleft palate / 国际口腔科学杂志·英文版

<p><b>AIM</b>Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (CO) in subjects with orofacial clefts.</p><p><b>METHODOLOGY</b>We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with nonsyndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values.</p><p><b>RESULTS</b>The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 micromol x L(-1) vs. 0.058 micromol x L(-1), respectively (P = 0.009). In patients with orofacial cleft, low malonylcarnitine levels (< or = 0.047 micromol x L(-1)) were 1.7 times more predominant than in healthy individuals (P = -0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 micromol x L(-1) vs. 37.8 micromol x L(-1), respectively (P = 0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-offpoints.</p><p><b>CONCLUSION</b>The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.</p>