A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).

The risks of developing energy or nutrient deficits are of great concern in infants and children with the rare lymphoedema cholestasis syndrome 1 (LCS1)/Aagenaes syndrome. In adolescents and adults, it is not known whether LCS1 patients need specific dietary advice outside periods of cholestasis. The primary objective of the present study was to evaluate the progression of the liver disease and nutritional status in patients with LCS1 over a period of nine years. Dietary and biochemical data were obtained for patients and healthy controls in two cross-sectional studies, a baseline (2000) and a follow-up study (2009). Thirteen patients above 18 years of age with LCS1 (65%) were included (six females). Dietary intake and biochemical measures were stable in the patients from baseline until follow-up. Compared to healthy controls, the patients had significantly higher serum levels of alkaline phosphatase (p = .015 and p = .002), gamma-glutamyltransferase (p = .001 and p < .001), total bile acids (p = .037 and p = .016), and fibrinogen (p = .046 and p < .001) and lower albumin (p = .033 and p < .001) and α-tocopherol (p = .011 and p = .003) at baseline and follow-up. Despite stable liver function, the presence of a low grade of hepatobiliary dysfunction in these patients was suggested. Patients with LCS1 had a nutritional status similar to healthy controls, with no clinical deterioration of liver function during the nine-year period. The findings presented in this paper support that more than 50% of patients with LCS1 can expect a normal lifespan.

Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome.

BACKGROUND: The characterizations of primary lymphedemas in different hereditary diseases are often published as case reports. In this study, 17 out of 20 Norweigian adult patients with lymphedema cholestasis syndrome 1 (LCS1)/Aagenaes syndrome were examined. The patients exhibited lymphedema and sporadic cholestasis. Individual clinical variations are described. METHODS AND RESULTS: Lymphedema was classified from Grade I to IV by clinical examinations and ultrasound B-mode scanning. To support the clinical findings, direct segmental multifrequency bioelectrical impedance analysis (DSM-BIA) was included and was compared to healthy matched controls. The lymphedema was similar to other hereditary lymphedemas, with more pronounced fluid retention in the lower extremities. It was generally more extensive, as it also included lymphedema in the arms, face, and trunk. Limited tissue fibrosis was observed, even after long-standing lymphedema. CONCLUSIONS: Approximately one-third of the patients had severe forms of lymphedema in the limbs (grades III and IV) and their conditions required close followup. A more frequent use of compression in the upper extremities is advised.

Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU : Low Phe Diet for Adults with PKU.

BACKGROUND: The main treatment for phenylketonuria (PKU) is a low phenylalanine (Phe) diet, phenylalanine-free protein substitute and low-protein special foods. This study describes dietary composition and nutritional status in late-diagnosed adult patients adhering to a PKU diet. METHODS: Nineteen patients, followed at Oslo University Hospital in Norway, participated; median age was 48 years (range 26-66). Subjects were mild to severely mentally retarded. Food intake, clinical data and blood analyses relevant for nutritional status were assessed. RESULTS: Median energy intake was 2,091 kcal/day (range 1,537-3,277 kcal/day). Carbohydrates constituted 59% (range 53-70%) of the total energy, including 15% from added sugar; 26% was from fat. The total protein intake was 1.02 g/kg/day (range 0.32-1.36 g/kg/day), including 0.74 g/kg/day (range 0.13-1.07 g/kg/day) from protein substitutes. Median dietary Phe intake was 746 mg/day (range 370-1,370 mg/day). Median serum Phe was 542 µmol/L (range 146-1,310 mg/day). Fortified protein substitutes supplied the main source of micronutrients. Iron intake was 39.5 mg/day (range 24.6-57 mg/day), exceeding the upper safe intake level. Intake of folate and folic acid, calculated as dietary folate equivalents, was 1,370 µg/day (range 347-1744 µg/day), and resulted in high blood folate concentrations. Median intake of vitamin B(12) was 7.0 µg/day (range 0.9-15.1 µg/day). CONCLUSIONS: The diet supplied adequate protein and energy. Fortification of the protein substitutes resulted in excess intake of micronutrients. The protein substitutes may require adjustment to meet nutritional recommendations for adults with PKU.

[Congenital hypothyroidism and the impact of thyroxine treatment]. / Medfødt hypotyreose og tyroksinbehandling.

BACKGROUND: We have studied the significance of the thyroxine treatment for neuropsychological functioning in young adults with congenital hypothyroidism. SUBJECTS AND METHODS: This is a neuropsychological follow-up study of a three-year cohort of early treated congenital hypothyroidism in Norway (N = 49) at age 20. Siblings comprise the control group (N = 41, 21 years). RESULTS: The patient group performed weaker than the control group on cognitive and motor measures. They reported somewhat more psychosocial problems; fewer completed high school. A more severe hypothyroidism at the time of diagnosis was associated with a larger motor deficit at age 20. Better cognitive function in young adulthood was associated with a higher thyroxine starting dose and serum thyroxine level in the first years of life. Blood samples in young adulthood showed elevated thyrotropin levels in 45% of the patients. INTERPRETATION: This study supports the new guidelines for treatment of congenital hypothyroidism with a higher starting dose of 10-15 microg thyroxine/kg/24 hours. The young adults are in need of better medical follow up.

Birth prevalence of homocystinuria.

Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples. Our results suggest that homocystinuria is more common than previously reported. Newborn screening for homocystinuria through mutation detection should be further considered.