Is your newborn baby always sleepy, not interested in breastfeeding? Or is he having trouble breathing? It's normal for you as a parent to feel very scared when you see these things. Sometimes, there can be a serious, and rare, condition behind these symptoms. One such condition is `(Nonketotic Hyperglycinemia)` or `(NKH)`. Let's talk about this in detail and simply today.
Do you know what `(NKH)` means?
Simply put, ``Nonketotic Hyperglycinemia`` or ``NKH`` is a very rare genetic condition . What happens is that our baby's body cannot properly control or break down a molecule called ``glycine``.
Now you may be asking what `(glycine)` is. `(Glycine)` is an amino acid `(amino acid)`. Just like bricks are needed to build a building, these amino acids are essential to build proteins in our body. So, when the baby's body cannot properly control this `(glycine)`, it starts accumulating in various parts of the body, especially in the brain . This is called `(hyperglycinemia)` when the level of `(glycine)` increases unnecessarily. This can cause severe neurological problems, coma, and sometimes even death in the baby.
The "nonketotic" part of the name refers to the fact that it is different from other diseases that can cause an increase in glycine in the body. NKH is also called an inborn error of metabolism . It is a condition that occurs at birth and affects the way certain chemical reactions in the body do not occur properly. Another name for this is glycine encephalopathy.
Are there any variants of `(NKH)`?
Yes, researchers divide NKH into two main types: classical and variant . This is caused by two types of changes in the genes. The names classical and variant NKH refer to which gene has the mutation.
Classical `(NKH)` is further divided into two types - severe and attenuated . These are classified according to the severity of the symptoms. Of these , severe `(NKH)` is the most common .
How common is this condition?
`(NKH)` is a very rare disease . Worldwide, about one in every 76,000 babies is affected by this disease. So don't be alarmed when you hear about this. However, it is very important to be aware.
What are the symptoms of `(NKH)` disease?
Symptoms of both severe and mild forms of ``NKH'' usually begin at birth . Sometimes, symptoms may appear within the first few months of life.
Symptoms of severe `(NKH)` condition:
The first things that babies with severe `(NKH)` may notice are:
- Excessive drowsiness (lethargy): This can gradually increase and progress to a coma.
- Muscle weakness (hypotonia): The baby may feel lifeless.
- Life-threatening breathing difficulties : This can be seen in the early days of life.
If you avoid these early symptoms, you will usually see the following:
- Difficulty drinking milk.
- Intermittent cessation of breathing (apnea).
- Severe intellectual disability .
- Abnormal muscle stiffness (spasticity).
- Seizures that are difficult to control .
Often, these children are unable to do normal developmental milestones, such as crawling, holding a toy, sitting up, and drinking from a bottle. Even if they learn something, those skills can `regress` over time. Imagine how sad that is for parents.
Characteristics of Attenuated NKH:
The symptoms of mild NKH are less severe than those of severe NKH, but are often similar. Children with mild NKH usually reach their developmental milestones, but their abilities can vary greatly . Development may be delayed, but most children eventually learn to walk and talk to others. Some children have seizures, but these are usually mild and treatable. In addition, symptoms such as involuntary movements (chorea), muscle stiffness (spasticity), and hyperactivity (hyperactivity) may also be seen.
What causes babies to develop `(NKH)`?
The main cause of this is changes in genes, or mutations . In particular, about 80% of patients are caused by changes in the gene called `(GLDC)`. The rest are caused by changes in the gene called `(AMT)`.
These `(GLDC)` and `(AMT)` genes instruct our body to make certain `(enzymes)`. These `(enzymes)` work together as a group. This group is called the `(glycine cleavage system )`. What this does is that when we don't need `(glycine)`, it breaks it into smaller parts. When the amount of `(Glycine)` increases, it interferes with brain function.
So, if there is a mutation in either of these two genes, it becomes difficult for our bodies to break down glycine. Some mutations reduce the function of this glycine cleavage system, while others completely eliminate it. When this system doesn't work properly, extra glycine builds up in the baby's organs, especially the brain. Scientists still don't know exactly how these abnormalities contribute to NKH symptoms.
The disease ``(NKH)`` is inherited in an ``autosomal recessive pattern.`` This means that both copies of the gene in each cell must have the mutation. Usually, both biological parents of a person with ``(NKH)`` have one copy of this mutated gene, but they do not develop symptoms.
How do doctors diagnose `(NKH)` disease?
To diagnose `(NKH)`, your baby's doctor will first do a physical exam and take a close look at the symptoms. Then,
- The level of `(glycine)` in the cerebrospinal fluid (`(Cerebral Spinal Fluid - CSF)`) and blood plasma `(plasma)` is tested. When the activity of the aforementioned `(enzyme)` decreases, the level of `(glycine)` in `(CSF)` and plasma increases. Also, the ratio between the level of `(glycine)` in `(CSF)` and the level of `(glycine)` in plasma also increases.
- An MRI scan of the brain is also very useful, as it can show a specific pattern of changes in the brains of babies with NKH.
- Genetic testing can also check for mutations in one of the two genes that cause NKH.
- Very rarely, a small piece of the liver may be taken for examination (liver biopsy) to confirm the diagnosis.
What are the treatments for `(NKH)`?
Because babies with `(Nonketotic Hyperglycinemia)` are usually very sick, they need to be treated in a `(Neonatal Intensive Care Unit - NICU)` . In the `(NICU)`, your baby will receive a high level of care and treatment.
Unfortunately, there is currently no cure for severe `(NKH)` . However, for babies with milder forms of `(NKH)`, some treatments may be helpful. These treatments need to be given early and aggressively to be most effective.
These treatments can be given alone or in combination:
- Medicines that reduce the level of `(glycine)` in the baby's body (e.g. `(sodium benzoate)` ).
- Drugs that work against the action of `(glycine)` in certain nerve cells (e.g. `(ketamine)` or `(dextromethorphan)` ).
Controlling seizures is also very important. Seizures can be difficult to control with standard medications. For successful treatment, you may need to combine several medications, and some medications, such as valproic acid, may need to be avoided. A ketogenic diet can also help control seizures.
Treatment for other `(NKH)` symptoms:
- Mechanical ventilation.
- A tube inserted into the stomach to provide food (gastrostomy tube).
- Physical therapy.
- Early intervention and additional support.
If you can, ask your doctor about the possibility of participating in a clinical trial .
What is the lifespan of someone with `(NKH)`?
It is difficult to say exactly how long someone with NKH can live. This is because there are many different genetic mutations and the severity of the disease varies greatly. However, the Foundation for Nonketotic Hyperglycinemia estimates that 80% of babies with the disease do not survive the neonatal period (the first month of life) . Even if they do survive the neonatal period, many children with severe NKH do not live past the age of 5. Your child's medical team will be able to give you a better idea of this. Rely on their expertise and support. I understand how difficult it must be to hear this.
Can this disease be prevented?
No. (NKH) is a genetic condition and cannot be prevented . If you are concerned that your child may inherit this condition, it is a good idea to talk to a genetic counselor before planning a pregnancy.
When should I take my baby to a doctor?
If your newborn baby is showing excessive lethargy or is not interested in breastfeeding , you should take him to a pediatrician right away. The doctor may also refer you to the hospital's emergency department for immediate treatment. Whatever the cause of these symptoms, it's important to get them checked out right away.
What questions should I ask my baby's doctor?
If your baby has `(NKH)`, you may want to ask these questions:
- What is the reason for the formation of `(NKH)`?
- What variant of `(NKH)` does my baby have?
- What treatment options do you recommend?
- Are there any tests that can predict the severity of this disease?
- How far can my baby progress in terms of development (walking, talking, intelligence)?
- Will my baby have to take medication for the rest of his life?
- Can my future children also develop `(NKH)`?
- Can you recommend a support group?
When your baby is diagnosed with Nonketotic Hyperglycinemia (NKH), the news can be a shock and a source of confusion. It can be overwhelming to learn that your baby has a rare condition that has few treatments. If possible, find a support group for families of children with NKH. Talking to others who have been through the same things as you can can give you some strength and help you cope. Remember, your baby's medical team is there to support you every step of the way.
## Important Things to Remember (Take-Home Message)
- (NKH) is a very rare, serious genetic disease .
- This causes a chemical called ``glycine'' to accumulate in the baby's body, especially in the brain .
- Symptoms usually begin at birth and can include excessive sleepiness, difficulty feeding, difficulty breathing, and seizures.
- Although there is no cure for the severe condition `(NKH),` there are some mild treatments available .
- If your baby has these symptoms, it is essential to seek medical advice immediately .
- You are not alone in this journey. Get help from your medical team and support groups . Your mental strength is also very important.
I hope this information is helpful to you. The most important thing in these difficult times is to stay strong.
` Nonketotic Hyperglycinemia, NKH, Glycine, Genetic Diseases, Childhood Diseases, Neurological Disorders, Metabolic Defects
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