Problem Amelia Q

Amelia is the only child of non-consanguineous parents, born at term after an uneventful pregnancy. At 14 months of age she was admitted to hospital with a 1 day

Table 10.6 Clinical chemistry results for plasma and urine samples from Amelia Q on admission and again 1 week later

Acute admission

One week later

Reference range

Plasma

Glucose (mmol/L) Sodium (mmol/L) Chloride (mmol/L)

14 132

  1. 1 137 105 20 4.9 5.5
  2. 5-5.5 135-145 100-106 21-25

Bicarbonate, mmol/L Urea (mmol/L)

99-313

3-11

Glucose (mmol/L) Sodium (mmol/L) Chloride (mmol/L)

Bicarbonate, mmol/L Urea (mmol/L)

Urine

Lactate (mg per g creatinine) Ketone bodies, using Ketostix

6.89

0.25 852

Undetectable 7.36

Urine

Lactate (mg per g creatinine) Ketone bodies, using Ketostix very high

1.48 negative

<0.1 negative

Table 10.7 Activities of mitochondrial enzymes from cultured skin fibroblasts (nmol product formed per min per mg protein)

Amelia Q Control subjects

Table 10.7 Activities of mitochondrial enzymes from cultured skin fibroblasts (nmol product formed per min per mg protein)

Amelia Q Control subjects

Citrate synthase

32.8

76.3 ±

: 15.1

Cytochrome c reduction by NADH

11.6

16.7 ±

4.6

Cytochrome c reduction by succinate

9.43

12.3 ±

3.2

Cytochrome oxidase

37.7

50.3 ±

: 11.6

NADH dehydrogenase

633

910 ±

169

Pyruvate carboxylase

0.03

1.62 ±

0.39

Pyruvate dehydrogenase

1.86

1.72 ±

0.35

Succinate oxidase

190

210 ±

30

history of persistent vomiting, rapid shallow respiration and dehydration. On admission her respiration rate was 60/min and her pulse 178/min. The first column in Table 10.6 shows the results of clinical chemistry tests at that time. She responded rapidly to intravenous bicarbonate and a single intramuscular injection of insulin.

The results of a glucose tolerance test 3 days after admission were normal, and her plasma insulin response to an oral glucose load was within the normal range. She was discharged from hospital 7 days after admission, apparently fit and well. The second column in Table 10.6 shows the results of clinical chemistry tests taken shortly before her discharge.

Amelia was readmitted to hospital at 16, 25, 31 and 48 months of age, suffering from restlessness, unsteady gait, rapid shallow respiration, persistent vomiting and dehydration. Each time the crisis was preceded by a common childhood illness and decreased appetite, and she responded well to intravenous fluids and bicarbonate. A number of milder episodes were treated at home by oral fluid and bicarbonate.

During her admission at age 25 months, a skin biopsy was taken, fibroblasts were cultured, and the mitochondrial enzyme activities shown in Table 10.7 were determined.

Can you explain the biochemical basis of Lucinda's condition?

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