3 methylglutaconyl coa hydratase deficiency natural cures

3 methylglutaconyl coa hydratase deficiency Definition

The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation.

3 methylglutaconyl coa hydratase deficiency Inheritance

This disorder only occurs when the patient acquire two diseased genes (or mutation of these genes). Soon after this, the symptoms begin to show. The carriers (patients with only one copy of the diseased gene) usually do not show any symptoms of the illness. Although they do not show symptoms, they can still pass the diseased gene to their children. There is a 25% chance that a child will have 3-Methyl Glutaconyl-CoA Hydratase deficiency if both parents carry the diseased gene. Just like any other genetic illness, it is best for families to go through genetic counseling so that each member of the family would be able to understand the risks and proper care of the disorder.

3 methylglutaconyl coa hydratase deficiency Testing

Screening for newborn babies can be done for this disorder by having a tandem mass spectrometry of a dried blood spot. Infants that are diagnosed with the disorder are shown to have increased (C5-OH) enzymes or the so-called C5-hydroxy acylcarnitine. This is not the final testing for 3-Methyl Glutaconyl-CoA Hydratase Deficiency, though. Additional testings need to be done to confirm diagnosis. These additional tests include (lymphocyte) hydratase enzyme activity measurement or fibroblasting. For prenatal diagnoses, the metabolites in the amniotic fluid are the ones that are being measured.

3 methylglutaconyl coa hydratase deficiency Treatment

To be able to treat 3-Methylglutaconyl-CoA Hydratase Deficiency, protein intake should be greatly reduced (specifically Leucine). Carnitine supplements can be given and prolonging fasts should be strictly avoided. And since the diagnosis and treatments of 3-Methylglutaconyl-CoA Hydratase Deficiency can be very complex, pediatricians are highly advised to collaborate with pediatric specialist on the disorder. Parents of afflicted children should constantly carry with them the guidelines for treatment that have been prescribed by the patient's pediatrician.


3 methylglutaconyl coa hydratase deficiency by state

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3 methylglutaconyl coa hydratase deficiency in Puerto Rico
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