Screening of 58 neonatal metabolic disorders in Iran (Part 10 - Report of an infant with ischemic ischemia)

Screening of 58 neonatal metabolic disorders in Iran (Part 10 - Report of an infant with ischemic ischemia)

A three-day-old baby was referred to the lab for screening tests for 58 metabolic diseases (a seemingly healthy baby at birth and the result of a non-familial marriage).

 At the time of the experiment, the C5 marker, or isovalel carnitine, was elevated, and with re-blood sampling on the fifth day of birth, the C5 marker level increased significantly, resulting in an "abnormal out-of-range" response to ischemic ischemic disease. Report and recommendation for diagnostic tests.

 From the seventh day of birth, the baby started a series of symptoms related to the acute form of the disease (vomiting, seizures, foot odor, etc.). After performing diagnostic tests until the fourteenth day after birth, the disease was confirmed and treated from the fifteenth day of birth. .


Iso valeric acid disease

It is an inherited disorder (autosomal recessive) associated with organic acids and is abbreviated IVA. People with this condition have difficulty absorbing the amino acid leucine (found in their daily diet).

These patients were unable to digest the amino acid leucine (due to a deficiency of the enzyme isovalerl coa dehydrogenase).

Disorders associated with organic acids are a group of rare inherited diseases caused by the inactivity of enzymes.

In order for the body to be able to use the proteins in food, the presence of a number of enzymes is essential.

Due to the lack or incorrect activity of one or more of these enzymes, disorders associated with organic acids occur.

 People with these disorders do not have the ability to properly digest the proteins in food, which increases the levels of some toxic and harmful substances in the blood and urine, resulting in physical and mental problems.

 The symptoms of these diseases and how to treat them depend on the type of disorder. The symptoms of a disease may also vary from person to person.

 The hereditary pattern of these disorders is the autosomal recessive pattern and is observed in girls and boys equally.


Prevalence of ischemic ischemia

The prevalence of this disease in the United States is 1: 250,000. There are no statistics on its prevalence in Iran.


Clinical signs

The effect of this disease on different people depends on its form. The disease has two different forms. About half of sufferers show the first symptoms of the disease in the first days after birth (acute form).

Another form of the disease, called chronic or intermittent, occurs in childhood.

Birth time: normal.

Neonatal period: The acute form of the disease manifests itself in the first few days or weeks of life with vomiting, which causes a narrowing of the pyloric valve.

 Other symptoms include localized or diffuse seizures, hypothermia, severe ketonuria, acidosis, increased ammonia and decreased blood calcium, intraventricular and cerebral hemorrhage, cerebral edema, and a specific odor such as sweaty feet.

Infancy: Frequent attacks of acidosis, ketosis, and coma following infection or surgery that begin with vomiting or imbalance can sometimes lead to low blood glucose and low white blood cell counts and platelets.

In mild types that occur in the first year or so, protein intake or infection triggers acidosis and ketosis attacks.

At this stage, the baby smells like foot sweat.

Childhood and Adolescence: including mild to severe mental retardation and small headache in some patients, decreased muscle tone, imbalance, tremor, Dysmetria = lack of motor coordination, extrapyramidal movement problems (control problems) Movement), increased tendon reflexes (involuntary tendon response), and abnormal gait.


Screening

Ascorbic acid markers are measured during screening for metabolic diseases using the MS / MS test.

One of the markers measured in this screening is the c5 test or isovalerl carnitine, which is the primary marker for diagnosing isovaleric acidemia.

If the screening result is higher than the cut-off point, the MS / MS test will be repeated 1 to 2 days later with re-blood sampling.

If there is an enzymatic defect, the above marker is expected to increase significantly.

Secondary markers: After confirming an increase in C5 in two steps, the increase in secondary markers in two steps is also checked.

These markers include:
Increase C5 / C0, C5 / C2, C5 / C3, C5 / C4 and C5 / C8

If these changes are observed in secondary markers, the individual's response is reported as "out of the normal range" and as "suspicious in terms of organic acid disorders (especially isovaleric acidemia)" and confirmatory tests are recommended.


Diagnosis using confirmatory tests

Organic Uric Acids: Severe Increase in Iso Valeryl Glycine and Hydroxy Iso Valeric Acid 3

Asyl Carnitine: Increased Iso Valeril Carnitine.

Plasma: Decreased total and free carnitine.

During an acute attack of the disease: an increase in lactic acid, acetic acid, 3-beta hydroxybutyric acid, 4-hydroxyiso-valeric acid, mesaconic acid and methyl succinic acid.


treatment

In the acute phase, treatment is similar to other organic acids (termination of the catabolic state by high glucose injection, acidosis removal, protein cessation, removal of toxins, administration of carnitine, and others).

 Treatment for chronic phase includes 50 to 100 mg of L-carnitine per day and 150 to 250 mg of L-glycine per kilogram of patient weight, bicarbonate and protein restriction, or reduced leucine.


Follow up treatment

It is done by measuring the excretion of iso-valerian glycine in the urine.

Prognosis

It is good if you are diagnosed early and continue intensive treatment. Mortality is reported to be up to 33% if left untreated.


Prevention of ischemic ischemic acid

In some children with IVA, even a minor illness, such as a cold or flu, can lead to a metabolic crisis.

Contact your doctor immediately to prevent any problems as soon as your child has symptoms such as loss of appetite, fever, vomiting, diarrhea, infection, or any other symptoms.

 Children with IVA should eat more fluids and foods high in carbohydrates during illness, even if they are not hungry, otherwise they may have metabolic crises.

Also, in sick children, protein intake should be severely restricted.

Many children with IVA will need serious treatment at the hospital during each period of illness to prevent any physical problems.

Note: In children who are referred for pancreatitis, an organic acid check is necessary.

     

RelatedNews Screening of 58 neonatal metabolic disorders in Iran (Part 10 - Report of an infant with ischemic ischemia)

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