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Tuesday, December 10, 2013
Inherited Disorders and Birth Defects
Can you tell me about the disease "lactacidemia" in children? My cousin`s sister has lost her three baby girls due to this disease as doctor said max age of the children having this is 2 years. After 3 baby girls she delivered a baby boy who is absolutely normal. Recently she has another baby girl who seemed to develop as normal child till age of 4 months, but now again same symptoms are emerging as her elder daughters had. She is extremly worried. Please send me the details of this disease.
"Lactacidemia" or lactic academia, means that abnormal levels of lactic acid are in the blood. Lactic acid is a normal by-product of when glucose is broken down in the body's tissues to be used for energy production. However, if the cells make too much lactic acid, then the blood becomes too acidic, which is called lactic acidosis.
There are many causes of lactic acidosis and many of them are genetic diseases called inborn errors of metabolism. You need to know the specific name of the disorder to be able to describe details of the disease. Many of these inborn errors of metabolism (such as defects in gluconeogenesis, pyruvate dehydrogenase, the respiratory chain, etc) involve a deficiency or lack of an important enzyme needed for metabolism. These disorders can cause delays in development, poor feeding and failure to thrive, poor muscle tone, rapid breathing (called tachypnea) and neurological problems such as seizures. Sometimes the symptoms become worse during times of illness or stress.
All inborn errors of metabolism are inherited. Most are inherited as autosomal recessive disorders – that is, the parents are carriers for a genetic change (mutation). The parents do not have the disease because they have one normal working copy of the gene; however, if they both pass on the non-working copy of the gene (the mutaton) to their child (can be either their sons or daughters) then the child inherits 2 non-working genes and is affected.
I would highly recommend that your cousin's sister talk to a geneticist or genetic counselor if they have not already done so. The genetics specialists can provide them with specific information about the genetic disorder has caused the lactic academia in their children. They can locate a genetics center near them at the National Society of Genetic Counselors Resource website located below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University