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Non-Ketotic Hyperglycinemia

What is Non-Ketotic Hyperglycinemia?

Non-Ketotic Hyperglycinemia is a rare autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine.

 

Non-Ketotic Hyperglycinemia is a rare autosomal recessive metabolic disorder characterized by abnormally high levels of the amino acid glycine.
Acknowledgement of Non-Ketotic Hyperglycinemia has not been added yet.
0.2http://www.orpha.net
Synonyms for Non-Ketotic Hyperglycinemia has not been added yet.
Non-Ketotic Hyperglycinemia is caused by a shortage of the enzyme that normally breaks down glycine in the body. An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Both parents are carriers of the gene.
There are several symptoms that affect people with Non-Ketotic Hyperglycinemia.
Name Description
Listlessness Listlessness
Spasticity Spasticity
Seizures Seizures
Involuntary muscle contractions Involuntary muscle contractions
Opisthotonos Opisthotonos
Hiccups Hiccups
Apnea Apnea
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
Convulsions Convulsions
Poor feeding Poor feeding
Vomiting Vomiting
High level of glycine High level of glycine in urine, in plasma, and in cerebrospinal fluid.
Reduced muscle tone Reduced muscle tone
1.Diagnostic elevated levels of glycine in the plasma, cerebral spinal fluid (CSF), and urine high CSF/plasma glycine ratio deficiency of the hepatic glycine cleavage enzyme system activity on samples collected by liver biopsy prenatal deficiency of the enzyme system activity in cultured chorionic villi 2. Serum some organic acidemias can cause hyperglycinemia (i.e., propionic and methylmalonic acidemias) and should be ruled out by serum and urine amino acid and organic acid determinations normal serum pH with no ketoacidosis 3. EEG diffusely abnormal hypsarrhythmia and/or burst-suppression pattern may be present 4. CT/MRI cerebral atrophy delayed myelination
Diagnostic tests of Non-Ketotic Hyperglycinemia has not been added yet
1. Supportive: multidisciplinary approach Pediatrics, Neurology, PT genetic counseling, P/T, O/T, speech therapy 2. Medical: Convert Glycine to an Excretable Compound a. Sodium Benzoate conjugates with glycine and excreted as hippuric acid reduces both plasma and CSF glycine concentrations clinical benefit more apparent in milder form of the disease b. Dextromethorphan (DM) glycine accumulation in the CNS may stimulate N-methyl-D-asparate (NMDA) receptors leading to increased excitatory activity with subsequent impairment of neuronal functions and synaptic development DM is a NMDA receptor antagonist and may diminish certain neurological manifestations c. Anticonvulsant Therapy indicated 3. Diet: protein restriction may be indicated
Patients usually die in the newborn period. Those that survive the newborn period are usually severely mentally impaired with seizures and spasticity if not treated medically. Some patients can learn to hold their head up, sit, walk, communicate, and eat orally. All children are affected to varying degrees of disabilities and abilities.
Tips or Suggestions of Non-Ketotic Hyperglycinemia has not been added yet.
References of Non-Ketotic Hyperglycinemia has not been added yet.
hello Created by dhalia
Last updated 1 Jul 2011, 09:59 AM

Posted by Northwest
1 Jul 2011, 09:59 AM

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.

Posted by dhalia
30 Jun 2011, 07:05 AM

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...

hi all Created by nkhmom1
Last updated 8 Jun 2010, 01:48 PM

Posted by Lwyde
8 Jun 2010, 01:48 PM

not sure how to use this site yet, but trying to figure it out

Posted by nkhmom1
16 Dec 2008, 02:40 AM

Hey its missy from ohio. Ryan Miller's mom. if anyone is on here let me know. hope everyone has a great holiday. Missy

Hi Created by Rachel
Last updated 21 Feb 2009, 06:01 PM

Posted by Judy
21 Feb 2009, 06:01 PM

Hi...feel free to email me at catrosenkh@yahoo.com and ask away. Also you can join our website at www.nkh-network.org to read the message board or sign up to be able to post questions or replys. ~Judy

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NKH International Family Network

We are a parental run support group where we offer information & guidance to those who have/had a child with NKH.

03/20/2017

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hello

Created by dhalia | Last updated 1 Jul 2011, 09:59 AM

hi all

Created by nkhmom1 | Last updated 8 Jun 2010, 01:48 PM

Hi

Created by Rachel | Last updated 21 Feb 2009, 06:01 PM


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