Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms in the PRODH gene, as detected by plasma amino acid analysis and Sanger sequencing. The patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability that was suggestive of a neurodevelopmental or learning disorder.

EFFECT OF PERIOD OF BOILING FULL-FAT SOYA BEANS ON ITS AMINO ACID PROFILE AND ON PERFORMANCE OF PIGS

Amino acid analysis and 2 growth studies were carried out to determine the effect of period of boiling of full-fat soyabeans on their nutritive value for weanling and growing pigs. Soyabeans were boiled in water for 15, 20, 25 or 30 minutes in Experiment 1 and 25, 30, 35 or 40 minutes in Experiment 2. Forty cross-bred (Large White x Hampshire) pigs were used in each of the experiments. Period of boiling had no effect on amino acid analysis of full-fat soyabeans. Weanling pigs had the best growth performance when soyabeans were boiled for 30 minutes ad this was not significantly different (P>0.05) from the soyabean meal control diet. Period of boiling of full-fat soyabeans did not significantly (P>0.05) affect the performance of the heavier pigs, although improvfement was observed up to 30 minutes of boiling.

Within-subject and between-subject biological variation of first morning void urine amino acids in 12 healthy subjects

BackgroundUrine amino acid analysis is used for the assessment of various diseases. The aim of this study was to estimate the valid biological variation (BV) components (within- and between-subjects) required for the safe clinical application of free urine amino acids.MethodsFirst morning void urine samples were taken from 12 healthy subjects (five females, seven males) once a week for 10 consecutive weeks, and amino acid analysis was performed using an Agilent 6470 triple quadrupole tandem mass spectrometer instrument. The obtained data were subjected to normality, outlier and variance homogeneity analyses prior to coefficient of variation (CV) analysis. Within- and between-subject BV values (CVI and CVG) of 39 amino acids were determined for all subjects. In addition, the index of individuality (II), reference change value (RCV), imprecision, bias and total error were estimated using BV data obtained from our study.ResultsThe CVI values ranged from 8.9 (histidine) to 36.8% (trans-4-hydroxyprolin), while the CVG values ranged from 25.0 (1-methyl-L-histidine) to 63.3% (phenylalanine). The II value of most amino acids was less than 0.6 and ranged between 0.21 and 0.88. The imprecision, bias and total error ranged between 4.45 and 16.6, between 7.69 and 16.6, and between 18.4 and 43.2, respectively.ConclusionsThis study, designed according to a rigorous protocol, has the feature of being the first to give information about BV data of urine amino acids. We believe that the reference intervals have a limitation in the evaluation of consecutive results from an individual, so the use of RCV would be more appropriate.