Metabolism
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An unconscious child with keto-acidosis and a skin rash
Barry
is the second child of parents who are first cousins; his brother is 5 years
old, fit and healthy. He was born at full term after an uneventful pregnancy,
weighing 3.4 kg (the 50th centile), and developed normally until he was 6 months
old, after when he showed some retardation of development. He also developed
a fine scaly skin rash about this time, and his hair, which had been normal,
became thin and sparse.
At 9 months of age he was admitted to UCL Hospital in a coma; emergency clinical
chemistry results on a plasma sample were as follows:
Barry |
Reference range |
|
| pH | 6.9 |
7.35 - 7.45 |
| Bicarbonate, mmol /L | 2.0 |
21 - 25 |
| Ketone bodies, mmol /L | 21 |
1 - 2.5 |
| Lactate, mmol /L | 7.3 |
0.5 - 2.2 |
| Pyruvate, mmol /L | 0.31 |
< 0.15 |
| Glucose, mmol /L | 3.3 |
3.5 - 5.5 |