Metabolism
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Muscle weakness, heart failure and profound hypoglycaemia in a young girl
CUD is a 7 year old girl. Since early infancy she has suffered from occasional attacks of coma, especially when she has been suffering from one of the usual childhood feverish illnesses. She tires easily, and has never been able to undertake strenuous exercise, or keep up with her peers in the playground.
Six months ago she complained of chest pains, and a physical examination was suggestive of heart failure, with tachycardia, moderate mitral insufficiency, gallop rhythm and left ventricular heave. A two dimensional echocardiogram showed the left ventricular end-diastolic dimension to be elevated at 7.46 cm, with a fractional shortening of 15%. A chest X-ray showed moderate enlargement of her heart. Her liver was moderately enlarged and palpable.
A fasting blood sample taken when she was first admitted to hospital gave the following results:
CUD |
reference range |
|
| glucose (mmol /L) | 2.6 |
3.8 - 6.0 |
| non-esterified fatty acids (mmol /L) | 1.8 |
1.0 - 1.4 |
| ketone bodies (mmol /L) | not detectable |
2.0 - 3.0 |
| sodium (mmol /L) | 141 |
135 - 145 |
| potassium (mmol /L) | 4.1 |
3.6 - 5.0 |
| bicarbonate (mmol /L) | 20 |
18 - 23 |
| ammonium (µmol /L) | 60 |
< 50 |
| pH | 7.4 |
7.35 - 7.45 |
| insulin (µU /mL) | 3.8 |
4 - 5 |
| glucagon (pg /mL) | 190 |
160 - 180 |
| aspartate aminotransferase (units /L) | 55 |
< 31 |
| alanine aminotransferase (units /L) | 64 |
< 31 |
| creatine kinase - muscle isoenzyme (units /L) | 366 |
< 170 |
| lactate dehydrogenase (units /L) | 250 |
< 290 |
| alkaline phosphatase (units /L) | 300 |
< 150 |
| gamma-glutamyl transpeptidase (units /L) | 290 |
< 60 |
| total carnitine (µmol /L) | 5.1 |
40 - 60 |