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November 2, 2001

Other Illnesses

Question from Dallas, Texas, USA:

My six week old granddaughter was rushed by ambulance in a coma and was diagnosed with metabolic acidosis.She is now on a glucose drip and, her urine and blood sugar levels are not elevated. Does this alone, eliminate the possibility of diabetes? A nephrologist has checked her kidneys, she didn't ingest any toxins (she is breast fed), and the only other thing that I know that will cause acidosis is diabetes. What tests do we need to insist on prior to her release from the hospital?

Answer:

If your granddaughter’s blood sugar and urine sugar levels have been normal, it is extremely unlikely that she has diabetes. It would appear that renal tubular acidosis, which does not usually cause coma, has been ruled out. In these circumstances, the most probable diagnosis is one of the organic acidurias which are rare inherited metabolic disorders.

Diagnosis and management really involves the help of a specialist in the field who has access to diagnostic laboratory facilities such as mass spectrometry. I am sure her pediatrician has already thought of this.

DOB