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Question:

From Georgia, USA:

We have a son with neurogenic diabetes insipidus; he is 10 years old. He has had it for 5 years but was recently diagnosed. Last year our youngest child, 3 years of age, was diagnosed with a variant form of MSUD. We have found that her diagnosis maybe a mitochondrial disease instead. With the rarity of DI and mitochondrial diseases we are wondering if there could be a connection. We also have two other healthy children. Can you help us in our search for a answer?

Answer:

Indeed there could be a link between the Diabetes Insipidus and the MSUD (Maple Syrup Urine Disease). One form of Diabetes Insipidus is called Wolfram's Syndrome or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness). These components of the disorder are very variably expressed, so that it would be possible to have DI and none of the others being present, at least to date. This is an autosomal recessive mitochondrial disorder and it raises the question of looking for the other components, especially Diabetes Mellitus, from time to time.

One form of MSUD is likewise an autosomal recessive mitochondrial disorder affecting the mitochondrial branched-chain ketoacid dehydrogenase enzyme. You might think to ask your pediatrician about a trial of large doses of the B complex vitamin, thiamine.

There is a recent report by McConnell BB, et al, in Biochimica et Biophysica Acta, 1361:263-71, which describes the MSUD work. This is rather highly technical, but if you could get a copy from your nearest medical library it would enable the children's physician to get in touch with the authors and perhaps arrange to make a specific diagnosis. I doubt if this would affect treatment very much apart from the possibility of using thiamine and a more extensive surveillance of the older child with DI; but the confirmation would explain this uniquely rare coincidence. The corresponding reference on DIDMOAD is by Bunday, et al, in J.Inherit.Metab.Dis., 15:315-319,1992.

DOB

Original posting 24 Dec 1998
Posted to Diabetes Insipidus and DIDMOAD

  
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Last Updated: Tuesday April 06, 2010 15:09:02
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