3HMG CoA Lyase Deficiency..?

[Soroush Ebrahimi]

MessageI am posting this msg on behalf of Dr Gafar.

Rgds
Soroush

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Dear All,
Did any one of you have suggestion on a case of 3HMG CoA Lyase (3 Hydroxy 3
Methylglutaric CoA Lyase) deficiency. It is an inborn error of Leucine
catabolism, passed on as an autosomal recessive trait.

The end step of the chain of Leucine metabolism is not realised, where
usually 3HMG CoA is broken in to Aceto acetate and Acetile CoA. This in turn
may also affect cholesterol synthesis. This leading to metabolic acidosis,
hypoglycaemia and hyperamonemia. Lactic acidemia can also happen. The other
notable signs being seizures, hepatomegali and pancreatitis. LFT will be
abnormal with increased AST and ALT as well as Prothrombin time, gamma
Glutaryl Transpeptidase and serum bilirubin. Amino acid profile for leucine
will also show an increase.

The clinical picture may vary from acute episodes of hypoglycaemia after an
attack of vomiting/diarrhoea and also fasting. There are chances for
frequent infections. There may also be pallor and dehydration. Long term
affect of hypoglycaemia may lead to mal-development of brain. If the acute
episode is not treated early and effective death can happen. The available
treatment option is frequent, leucine free, carbohydrate rich diet. There
are special formula available commercially. Also special care is taken to
avoid any kind of prolonged fasting, vomiting and/or diarrhoea episodes.

The patient is having an appointment after one week from now. Please come
forward with any suggestion or experience with the case other than totality
of symptoms and the similimum, which of course I am going to do when the
case comes in.

Thanking in advance,
Dr. Abdul Gafar. www.homeoweb.com/clinic/uae.htm
Tel: +971 50 4699659 (mobile-UAE)
+91 944 7244662 (mobile-India)
(Presently in UAE)
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Definitely, science will catch up with Homoeopathy!

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[Joy Lucas]

Personally I would be studying all I could about leucine metabolic
disorders and google will suffice and acidosis and other end resulting
states are clearly named in our reps and materia medica - nat phos
being just one rx for acidosis. I would devise a method whereby sx are
sorted, i.e. those that belong to the condition (the common sx) and
those that are particular to your client. As you mention diet can play
a crucial role and this needs to be taken on board. Specific organs
that are involved with the production of ketones might need some
support. I hope you will be able to share more with us on this case.
Best wishes, Joy
http://www.homeopathicmateriamedica.com
http://www.homeopathicmateriamedica.blogspot.com
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