A 1.5yr old baby girl died due 2 metabolic acidosis?
precipitated by infections associated with ketosis, and presence of glycerol on GC/MS of plasma; Fructose-1,6- diphosphatase deficiency should be suspected strongly.
1. Partial Biotinidase enzyme activity (4.29 nmol/min/ml) (this can be seen in post- mortem samples).
2. Low free carnitine
3. Grossly elevated NEFA (4,608 mEq/L)
4. Presence of Glycerol on GC/MS of plasma for organic acids.
these r d reports.....doctors said dis is inborn and i want 2 know whether dis will affect d next child...plss help..and i want 2 know d details of cause of her death...pls someone help..i just want 2 know whether this will effect their next child...if so is der any treatment
I checked a medical encyclopedia, and apparently the question of whether another child of the same parents will be at risk depends on what caused the metabolic acidosis in the first place. Here is some of what it says:
Metabolic acidosis occurs when the body produces too much acid, or when the kidneys are not removing enough acid from the body. There are several types of metabolic acidosis:
Diabetic acidosis (also called diabetic ketoacidosis and DKA) develops when substances known as ketone bodies, which are acidic, build up during uncontrolled type 1 diabetes
Hyperchloremic acidosis results from excessive loss of sodium bicarbonate from the body, as can happen with severe diarrhea
Lactic acidosis is a buildup of lactic acid. It can be caused by:
Exercising for a very long time
Low blood sugar (hypoglycemia)
Medications such as salicylates
Prolonged lack of oxygen from shock, heart failure, or severe anemia
Other causes of metabolic acidosis include:
Kidney disease (distal tubular acidosis and proximal renal tubular acidosis)
Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol
As you can see, some of the causes are avoidable, and some are inherent but manageable (like diabetes) and some are probably not treatable. The parents should talk to the doctor to find out more about what the cause was, so they can know the possibilities for another child.
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