Non-Ketotic Hyperglycinemia is a rare autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine.
|Involuntary muscle contractions||Involuntary muscle contractions|
|Failure to thrive||Failure to thrive|
|Mental retardation||Mental retardation|
|Progressive spastic diplegia||Progressive spastic diplegia in late onset form|
|Optic atrophy||Optic atrophy in late onset form|
|Poor feeding||Poor feeding|
|High level of glycine||High level of glycine in urine, in plasma, and in cerebrospinal fluid.|
|Reduced muscle tone||Reduced muscle tone|
Hi Dhalia, I'm really sorry to hear about your little girl being diagnosed with NKH. We have a 15month old son who also has NKH, he was diagnosed at 8 days old and has the very severe form although he does now feed by mouth, cries when he us unhappy and hits toys that are near him. He has a few fits a day although some days he has none at all. Is your little girl on medication? There is a great support network, the NKH network and Judy Clifford will put you in touch with other families who might live near you. It's really hard because like you, we just don't know what the future holds for our son but all we can do is make him as comfortable as we can and enjoy every day we have with him. All the best and let me know if you have any questions.
I'm new here... My first and only child was recently diagnosed with non-ketotic hyperglycinemia. She's 7-month-old and I'm very affraid of what is going to happen. Please, I would like to know how others cope with this...
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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