Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects

AS Davison; AM Milan; AT Hughes; John Dutton; Lakshminarayan Ranganath

Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects

AS Davison, AM Milan, AT Hughes, John Dutton, Lakshminarayan Ranganath

Norwich Medical School

Research output: Contribution to conference › Poster › peer-review

Abstract

Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase.
Medical management of AKU has been palliative relying largely on analgesia and arthroplasty. With the establishment of a National Alkaptonuria Centre in Liverpool, nitisinone (NTBC), is being prescribed to AKU patients. Monitoring of off-licence therapy is essential for patient safety. NTBC has resulted in a >95% suppression of HGA excretion with a concurrent rise in serum tyrosine (>500 μmol/L).
On-going clinical trials as part of the DevelopAKUre program are assessing the dose of NTBC which suppresses HGA to within the normal healthy population reference range. This study was aimed at determining the reference range of HGA and tyrosine in serum and urine, in a non-AKU population.

Original language	English
Publication status	Published - 2014
Event	EuroLabFocus - Liverpool, United Kingdom Duration: 7 Oct 2014 → 10 Oct 2014

Conference

Conference	EuroLabFocus
Country/Territory	United Kingdom
City	Liverpool
Period	7/10/14 → 10/10/14

Cite this

@conference{7a7e549fc04a48deb91f88613c486441,

title = "Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects",

abstract = "Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase.Medical management of AKU has been palliative relying largely on analgesia and arthroplasty. With the establishment of a National Alkaptonuria Centre in Liverpool, nitisinone (NTBC), is being prescribed to AKU patients. Monitoring of off-licence therapy is essential for patient safety. NTBC has resulted in a >95% suppression of HGA excretion with a concurrent rise in serum tyrosine (>500 μmol/L).On-going clinical trials as part of the DevelopAKUre program are assessing the dose of NTBC which suppresses HGA to within the normal healthy population reference range. This study was aimed at determining the reference range of HGA and tyrosine in serum and urine, in a non-AKU population.",

author = "AS Davison and AM Milan and AT Hughes and John Dutton and Lakshminarayan Ranganath",

year = "2014",

language = "English",

note = "EuroLabFocus ; Conference date: 07-10-2014 Through 10-10-2014",

}

TY - CONF

T1 - Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects

AU - Davison, AS

AU - Milan, AM

AU - Hughes, AT

AU - Dutton, John

AU - Ranganath, Lakshminarayan

PY - 2014

Y1 - 2014

N2 - Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase.Medical management of AKU has been palliative relying largely on analgesia and arthroplasty. With the establishment of a National Alkaptonuria Centre in Liverpool, nitisinone (NTBC), is being prescribed to AKU patients. Monitoring of off-licence therapy is essential for patient safety. NTBC has resulted in a >95% suppression of HGA excretion with a concurrent rise in serum tyrosine (>500 μmol/L).On-going clinical trials as part of the DevelopAKUre program are assessing the dose of NTBC which suppresses HGA to within the normal healthy population reference range. This study was aimed at determining the reference range of HGA and tyrosine in serum and urine, in a non-AKU population.

AB - Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase.Medical management of AKU has been palliative relying largely on analgesia and arthroplasty. With the establishment of a National Alkaptonuria Centre in Liverpool, nitisinone (NTBC), is being prescribed to AKU patients. Monitoring of off-licence therapy is essential for patient safety. NTBC has resulted in a >95% suppression of HGA excretion with a concurrent rise in serum tyrosine (>500 μmol/L).On-going clinical trials as part of the DevelopAKUre program are assessing the dose of NTBC which suppresses HGA to within the normal healthy population reference range. This study was aimed at determining the reference range of HGA and tyrosine in serum and urine, in a non-AKU population.

M3 - Poster

T2 - EuroLabFocus

Y2 - 7 October 2014 through 10 October 2014

ER -