Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.

We are reporting a retrospective review of blood phenylalanine (Phe) concentrations in 33 patients with classical phenylketonuria (PKU) born between 1991 and 2009 and continuously followed up in our clinic in 2009. As an indicator of blood Phe control, we analysed the percentage of blood Phe concentrations within and outside of the treatment range for each individual for treatment periods between 1 month and 12 months, 1 to 6 years, and 6 to 12 years of age. Despite early diagnosis and medical management in a centralized care model, only approximately 40% of patients had 60% and more of their blood Phe concentrations within the treatment range during their lifetime treatment periods. There was no statistical difference for the percentage of blood Phe concentrations within the treatment range, the mean Phe concentrations or the SD between the various treatment periods. We found a correlation between Phe tolerance and percentage of blood Phe concentrations within the treatment range. Patients born between 1991 and 1999 had poorer control than those born later. A frequent quality assurance audit is recommended to assess treatment outcomes in clinics providing care to children with PKU.

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

A 4-year-old female with history of developmental regression and autistic features was diagnosed with guanidinoacetate methyltransferase deficiency at age 21 months. Upon treatment, she showed improvements in her developmental milestones, sensorial-neural hearing loss and brain atrophy on cranial-MRI. The creatine/choline ratio increased 82% in basal ganglia and 88% in white matter on cranial MR-spectroscopy. The CSF guanidinoacetate decreased 80% after six months of ornithine and creatine supplementation and an additional 8% after 18 months of additional arginine restricted diet. We report the most favorable clinical and biochemical outcome on treatment in our patient.

Free galactose content in selected fresh fruits and vegetables and soy beverages.

The free galactose content was determined in three soy beverages, and 34 selected fruits and vegetables purchased at different times of the year and/or local markets in British Columbia, Canada. The objective of the work was to provide additional information on the free galactose content of foods to assist individuals with galactosemia in making dietary decisions. Free galactose contents in the selected plant materials ranged from 2.0 +/- 0.1 mg/100 g in red potato to 39.7 +/- 1.9 mg/100 g in red pepper. Different time of the season, variety, and storage of the product affected the free galactose contents in most of the plant materials measured in this study. Free galactose levels in kiwi, green seedless grapes, and bell peppers were found to be higher than previous reports, whereas the amount of free galactose in three varieties of tomatoes was significantly lower than previously reported. An evaluation of the change of galactose in Roma tomatoes during ripening showed that free galactose levels increased linearly over time, and storage at 4 degrees C significantly increased free galactose levels in tomatoes. Soy beverages made from soy protein isolate contained less free galactose (1.3 +/- 0.2 mg /100 g) compared to the samples made from whole soybeans (4.8 +/- 1.9 and 5.3 +/- 1.7 mg/ 100 g). This study provides additional information on the range of free galactose in fruits and vegetables which will allow individuals with galactosemia to make more informed dietary choices.

Effect of processing on galactose in selected fruits.

PURPOSE: The impact of consuming processed versus fresh fruits and vegetables on the galactose intake of galactosemic patients was compared. METHODS: The galactose content of processed fruits was determined when the following processing methods were used: freezing, drying, blanching, microwaving, canning, and a combination of blanching and freezing. Then three-day food intakes of five subjects with galactosemia were recorded. The records were used to estimate galactose intake, according to previously reported galactose levels for fresh fruits and vegetables and the potential reduction in galactose intake when only processed fruits and vegetables are consumed. RESULTS: The average galactose reduction was approximately 45% for all the fruits and all processing methods, excluding drying. Intakes varied from 17 to 108 mg/day when fresh values were used and 11 to 103 mg/day when only processed fruits and vegetables were consumed. This reduction was statistically significant for four out of five patients. CONCLUSIONS: When the reduction is compared with reported daily fluctuations in galactosemic patients' endogenous galactose production, the clinical significance of reduced free galactose consumption on long-term outcome is unclear. However, metabolic dietitians now have objective data that the processing methods described will lower the free galactose content of the fruits analyzed.

Free galactose concentrations in fresh and stored apples (Malus domestica) and processed apple products.

Gas chromatography was used to quantitate free galactose in Braeburn, Fuji, Red Delicious, and Spartan apples during cold storage, after thermal processing of apple slices and in juice produced using clarification and/or liquifaction enzymes. Spartan had significantly higher galactose levels as compared to Red Delicious apples, but changes in galactose in all varieties during 9 months of cold storage were insignificant. Blanching and canning decreased galactose levels, but doubling the thermal processing during canning increased the free galactose concentration detected in plant tissue. An enzymatic liquefaction aid used to prepare apple juice dramatically increased the free galactose content while a clarification aid caused only a slight increase due to its selective action on soluble pectin. These findings provide useful information for dietitians to base diet recommendations for galactosemic patients.