Metabolic disorders

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kannanvaidyanathan
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Metabolic disorders

Post by kannanvaidyanathan » Thu Sep 11, 2008 9:47 am

Quite a high incidence of different metabolic disorders are prevalent in Kerala. We have analyzed around 3500 cases for metabolic disorders in my lab at AIMS in the last two years. at least 300 cases with definite diagnosis have been obtained.

We have detected a high proportion of organic acidurias including maple syrup urine disease, isovaleric aciduria, alkaptonuria, propionic aciduria and methyl malonic acidurias using hplc and gas chromatography . other disorders like hyperhomocystinemias and congenital adrenal hyperplasias, other aminoacidurias are also prevalent.

i am in the process of converting the results into couple of presentable publications. also 3-4 projects on molecular mechanisms of various disorders are being planned. hopefully i can contribute more to this field...

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biju
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Re: Metabolic disorders

Post by biju » Thu Sep 11, 2008 5:08 pm

Remarkable, Kannan. Keep it up.
I know that you have an endocrine/ diabetes set up at AIMS. Have you come across any cases of neonatal or other monogenic forms of diabetes? Do you have any links with genetic labs anywhere else or do you have one in AIMS to do any genetic screening/ testing?
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DrSunil
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Re: Metabolic disorders

Post by DrSunil » Thu Sep 11, 2008 6:31 pm

Biju, I think it is not done at AIMS, what we do is to send the sample to a guy in UK who does the genetic study for free ...I know of a case from ICH kottayam and Dr Unnikrishnan, endocrinologist at AIMs told me that he has sent few cases to him...

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biju
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Re: Metabolic disorders

Post by biju » Thu Sep 11, 2008 10:45 pm

Sunil, that 'guy in UK' is Prof. Andrew Hattersley at Exeter, UK, the BIG DADDY in genetic diabetes. Yes, his centre provides genetic screening for all children diagnosed with diabetes aged 6 months or less (occasionally upto 1 year) for free.
For my good fortunes, I was in the right place at the right time in my last job to have been involved with an interesting case, a patient erroneously treated as neonatal diabetes until recently (pre-2005 nobody knew about neonatal diabetes, hence), and successfully came off insulin to sulfonylurea at age 38, the oldest patient known to have done that!
I commented about her here http://www.mck91.org/forum3/viewtopic.php?f=2&t=79
Prof Hattersley guided the management. We hope to get it published soon.
Last edited by biju on Sat Sep 20, 2008 12:17 pm, edited 1 time in total.
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kannanvaidyanathan
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Re: Metabolic disorders

Post by kannanvaidyanathan » Fri Sep 12, 2008 2:00 am

as sunil said it is not done at AIMS. a few genetic tests are done here though nothing substantial (like tb pcr, hpv, hpe, factor 8 leiden, prothrombin gene, mthfr 677 c t, hla etc). most of the other tests like genes for pancreatitis, and some other disorders are being done as part of research projects.dont known when they can be developed into clinical assays. its not easy to get started. once established it s much easier to develop molecular assays for other disorders though.

biju do you know anyone working on metabolic disorders in uk or australia ?

kannanvaidyanathan
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Re: Metabolic disorders

Post by kannanvaidyanathan » Fri Sep 12, 2008 2:04 am

there are quite a number of genetic centers in india now (the list is a small book itself!). its pretty much the in thing now, ddrc is starting in kerala, so are the metropolis group. i heard that delhi itself there are a number of centers...

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DrSunil
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Re: Metabolic disorders

Post by DrSunil » Fri Sep 12, 2008 5:36 pm

Biju, do you have his email or a website?

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biju
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Re: Metabolic disorders

Post by biju » Mon Sep 15, 2008 10:30 pm

Sunil, here is the link to the website for the Exeter team
http://www.diabetesgenes.org/
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kannanvaidyanathan
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Re: Metabolic disorders

Post by kannanvaidyanathan » Tue Sep 16, 2008 12:22 pm

nice info biju. great site. thanks. anybody else working exclusively on inborn errors of metabolism that you know of, that s what i meant by metabolic disorders (though diabetes is the major metabolic disorder)... ??? i know a few guys elsewhere, not in UK.

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biju
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Re: Metabolic disorders

Post by biju » Fri Sep 19, 2008 5:00 pm

Unfortunately not, Kannan. My metabolic medicine exposure is purely in adult medicine at present; no paediatric commitments yet, although with my next postings at our regional university centre I would definitely get involved with a few.
We do have good clinical chemistry departments here, most of whom works very closely with the diabetes/ endocrinology team. And I know a few of them. But I do not think your area of specialisation is their primary interest.

Yes, the Exeter team is doing phenomenal work in the field of monogenic diabetes. Real breakthrough!
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