[laurainri]

Has anybody encountered this ? Is it possible for the child to be 3 mo old and then be diagnosed with this disease? The info that I get from journals really is not helping me..

[indigo girl]

http://en.wikipedia.org/wiki/Maple_syrup_urine_disease

I have never heard of this, and had to look it up.

[sirI]

Yes, the dx can be delayed for months.

Here are a couple more links:

http://www.emedicine.com/ped/topic1368.htm

http://www.msud-support.org/overview.htm

[GingerSue]

yes, it's described in the Pediatric text book:
an Inborn Error of Metabolism
Maple Syrup urine disease - it is very rare (1 in 250,000 live births), autosomal recessively inherited condition that affects the metabolism of certain amino acids. Buildup of acids causes ketoacidosis, which appears 48 to 72 hours after birth. The infant is lethargic and can experience poor feeding, vomiting, weight loss, seizures, and loss of reflexes. The urine smells like maple syrup. Dialysis is needed to reduce accumulated acids. The child must be on a lifelong low-protein, limited-amino acid diet. If untreated, the child can die quickly; children who have been treated can experience neurologic deficits. Referral to a genetic counseling center is warranted.

Most states provide screening for this disease

[Rach101]

i cared for a child who was in hospital with symptoms of seizures and becoming increasingly unsteady on their feet- child learnt how to walk and then was having difficulty standing, started falling more and hitting their head on objects. They were about 15months. Were diagnosed with maple syrup urine disease!

Interestingly, we found the family had 3 children die previously shortly after birth. Never found out what from- the family was transferred shortly after the diagnosis and their english was very limited.

[kidznurse]

I have looked after 3 kids with this rare metabolic disorder , but then again have also worked in paeds around the world for nearly 30 years, so understandable. Rare metabolic disorders like MSUD and others I have nursed (eg orotic aciduria /glycogen storage disease etc) harder to identify because -as they say in medicine, need to look for horses( common) before the zebras (uncommon).
Very difficult for parents with kids with rare metabolic disorders to stick with restrictive diets and frequent hospitalisations . Most difficult thing with hospital is ignorance of staff who are used to horses but ignorant about zebras, and therefore untrustworthy and likely to be blase or arrogant about a rare disorder. My best advice to all paed nurses in hospital or community ask the parents for the specific info on their child, and get as much internet info as possible on a rare disorder. It might only occur to 1 per 100,000 children but it occurs 100% to the children that cop the unlucky odds. Good luck