help interpret metabolic abnormalities!

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EmilyV
Posts: 61
Joined: Thu Feb 09, 2017 9:41 pm

help interpret metabolic abnormalities!

Postby EmilyV » Wed May 03, 2017 9:17 pm

My child is 2.2 years old with ASD, whose only delay so far has been social skills but who is verbal and who hasn't had much motor delay. He is on GFCF diet.
Here are our abnormal fasting labs:
1) Blood:
Lactate 4.3 (normal <2.4)
Puryvate 0.092
C02 19 (nl 24 – 32)
CK 180 (nl <163)
Ferritin 9 (nl 23-236)
Other anemia measures normal
Free carnitine 17 (25-55)
Total carnitine 30 (35-90)

Plasma amino acids normal
Lymphocytes 73.2 (36-54)
Neutrophils 20.7 (38-46)
CRP <1
ASO Ab 8 (nl)
EBV IGG 2.03 (ref >1.10 positive)
EBV IgM <0.90 (neg)
EBV nuclear antigen AB 4.12 (>1.10 positive)

2. Fasting urine
Urine creatinine fasting 14 (24-392)
3-OH butyric acid 166 (0-4)
Acetoacetic acid 400 (0-4)


Basically really abnormal are fasting acetoacetic and 3OH butyric acid and lactate. Could this lactic acidosis and ketogenic state due to a mitochondrial defect? I am going crazy as his levels of 3-oh butyric acid and acetoacetic acids are unbelievably high.
THank you!

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