Department of Clinical Chemistry and Newborn Screening
The Children’s Hospital
Sheffield
S10 2TH
Mrs Camilla Scott
Dr Jane Dalley
UK
Telephone
Fax
(+)44 114 271 7340
(+)44 114 270 6121
E-mail: [email protected]
April 2017
Dear Participant,
ERNDIM Qualitative Organic Acid QA Scheme 2017
Please find enclosed nine heat-treated urine samples and the corresponding response sheets,
forming all three “circulations” for 2017. Please analyse them in three separate sets shortly
before the corresponding closing dates:
Samples 241-243 have the closing date 29th May.
Samples 244-246 have the closing date 24th July
Samples 247-249 have the closing date 25th September
Please try to return your results on time.
PLEASE NOTE: the closing dates for returning your responses to the
scheme have changed.
Closing dates are earlier.
Missing results
Over recent years we have had a number of representations from laboratories whose returns
have not been received and who have consequently been given a zero score for that circulation.
Unfortunately we are not able to accept returns sent in after the report for that circulation has
been mailed as this would jeopardize the integrity of the scheme. In most cases the missing
results had been sent by FAX but never arrived but the normal postal services or E-mail may
fail too. As last year, we will send E-mail reminders to any centre whose result is outstanding
after the closing date and, this year, a further reminder will be sent ten days later.
Yours sincerely
Jane Dalley
Camilla Scott
ERNDIM Qualitative Organic Acid QA Scheme 2017
The nine heat-treated urine samples enclosed contain thiomersal as preservative.
Set 1: Closing date 29th May.
Sample 241
3 Month old hypoglycaemia, abnormal liver function, on treatment
Sample 242
Developmental delay 2 year old
Sample 243
Metabolic acidosis and anaemia- 6 month old female
Set 2: Closing date 24th July
Sample 244
Muscle weakness, unwell, episodes of hypoglycaemia
Sample 245
Episodes of unresponsive hypoglycaemia 7 year old
Sample 246
Autistic spectrum disorder 7 year old.
Set 3: Closing date 25th September
Sample 247
Epilepsy 5 year old.
Sample 248
Fever – sample taken at time of fever 3 year old.
Sample 249
Same patient as 248 sample taken when well
Analyse these samples in the normal way of your laboratory.
Report as you would to a non-specialist paediatrician in a distant general hospital. If a
specialist colleague (e.g. a clinical geneticist or metabolic paediatrician) normally gives
interpretation and advice on further investigation please include their contribution in your
report.
Please use the report pro-forma to produce a structured response and provide clear guidance to
the requesting physician. When reporting “the most likely diagnosis” it is permissible to use
group terms such as “methylmalonic acidaemia” or “tyrosinaemia non-type 1” and then be
more specific in the following box. The “Further investigations” box should indicate any
additional investigations you consider necessary to interpret or confirm conclusions based on
the analytical results. The “Additional comments” box may be used for caveats or to suggest
other lines of investigation based on the clinical presentation rather than the analytical
findings.
Please Enclose a labeled copy of the total ion chromatogram for each sample.
Address reports to:
ERNDIM Organic Acid EQA Scheme
Department of Clinical Chemistry
Sheffield Children’s Hospital
Sheffield, S10 2TH, UK
Or email results to : E-mail: [email protected]
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample 241
3 Month old hypoglycaemia, abnormal liver function, on treatment
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample 242
Developmental delay 2 year old
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample 243
Metabolic acidosis and anaemia- 6 month old female
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample 244
Muscle weakness, unwell, episodes of hypoglycaemia
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM#
Sample 245
Episodes of unresponsive hypoglycaemia 7 year old
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample 246
Autistic spectrum disorder 7 year old.
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample 247
Epilepsy 5 year old.
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form – ERNDIM #
Sample 248
Fever – sample taken at time of fever 3 year old.
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)
ERNDIM Organic Acid QA Response Form - ERNDIM #
Sample 249
Same patient as 248 sample taken when well
Major analytical findings
The most likely diagnosis (one only)
This diagnosis is: Fairly certain
Tentative
Other possible diagnoses (if applicable)
Further investigations required to confirm/clarify the diagnosis
Additional comments (if required)