Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
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Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria. / Stéphenne, X; Debray, F G; Smets, F; Jazouli, N; Sana, G; Tondreau, T; Menten, R; Goffette, P; Boemer, F; Schoos, R; Gersting, S W; Najimi, M; Muntau, A C; Goyens, P; Sokal, E M.
in: CELL TRANSPLANT, Jahrgang 21, Nr. 12, 2012, S. 2765-70.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria
AU - Stéphenne, X
AU - Debray, F G
AU - Smets, F
AU - Jazouli, N
AU - Sana, G
AU - Tondreau, T
AU - Menten, R
AU - Goffette, P
AU - Boemer, F
AU - Schoos, R
AU - Gersting, S W
AU - Najimi, M
AU - Muntau, A C
AU - Goyens, P
AU - Sokal, E M
PY - 2012
Y1 - 2012
N2 - Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.
AB - Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.
KW - Cell- and Tissue-Based Therapy
KW - Child
KW - Female
KW - Glycogen Storage Disease Type I/therapy
KW - Half-Life
KW - Hepatocytes/cytology
KW - Humans
KW - Infant
KW - Liver Function Tests
KW - Male
KW - Phenylalanine/blood
KW - Phenylalanine Hydroxylase/genetics
KW - Phenylketonurias/diagnosis
U2 - 10.3727/096368912X653255
DO - 10.3727/096368912X653255
M3 - SCORING: Journal article
C2 - 22889463
VL - 21
SP - 2765
EP - 2770
JO - CELL TRANSPLANT
JF - CELL TRANSPLANT
SN - 0963-6897
IS - 12
ER -