Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
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Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. / Meissner, Thomas; Mayatepek, Ertan; Kinner, Martina; Santer, René.
In: CLIN CHIM ACTA, Vol. 341, No. 1-2, 1-2, 2004, p. 23-26.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
AU - Meissner, Thomas
AU - Mayatepek, Ertan
AU - Kinner, Martina
AU - Santer, René
PY - 2004
Y1 - 2004
N2 - Background: Congenital hyperinsulinism (CHI) is the most frequent cause of recurrent episodes of hypoglycemia in infancy and results from different underlying genetic defects. The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130). Diagnosis of this entity is of clinical importance since invasive diagnostic procedures which are performed to identify focal pancreatic lesions are not necessary in HHS. Therefore, we investigated whether urinary concentration of alpha-ketoglutarate (alpha-KG) is elevated in patients with hyperinsulinism. Methods: Excretion of alpha-KG was measured by gas-chromatography/mass spectrometry (GC/MS) in eight patients with an activating GLUD1 mutation and 90 controls. Results: Urinary alpha-KG was significantly elevated in seven of eight patients when compared to controls. Hyperammonemia was found in six of the eight patients with HHS. No relation was found between the underlying GLUD1 mutation and the level of urinary alpha-KG as well as the presence or absence of hyperammonemia. Conclusion: Urinary alpha-KG is elevated in most patients with HHS and should be included in the work-up of patients with hyperinsulinism.
AB - Background: Congenital hyperinsulinism (CHI) is the most frequent cause of recurrent episodes of hypoglycemia in infancy and results from different underlying genetic defects. The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130). Diagnosis of this entity is of clinical importance since invasive diagnostic procedures which are performed to identify focal pancreatic lesions are not necessary in HHS. Therefore, we investigated whether urinary concentration of alpha-ketoglutarate (alpha-KG) is elevated in patients with hyperinsulinism. Methods: Excretion of alpha-KG was measured by gas-chromatography/mass spectrometry (GC/MS) in eight patients with an activating GLUD1 mutation and 90 controls. Results: Urinary alpha-KG was significantly elevated in seven of eight patients when compared to controls. Hyperammonemia was found in six of the eight patients with HHS. No relation was found between the underlying GLUD1 mutation and the level of urinary alpha-KG as well as the presence or absence of hyperammonemia. Conclusion: Urinary alpha-KG is elevated in most patients with HHS and should be included in the work-up of patients with hyperinsulinism.
M3 - SCORING: Zeitschriftenaufsatz
VL - 341
SP - 23
EP - 26
JO - CLIN CHIM ACTA
JF - CLIN CHIM ACTA
SN - 0009-8981
IS - 1-2
M1 - 1-2
ER -
