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Heart failure in a patient with methylmalonic acidemia
Molecular Genetics and Metabolism 92 (2007) 188 www.elsevier.com/locate/ymgme
Letter to the Editor Heart failure in a patient with methylmalonic acidemia
Table 1 Laboratory tests of patient at first visit
Case report
Test
Result
Reference value
Blood pH PaCO2 BE HCO3 PaO2 O2 sat Serum sodium Serum potassium Serum chloride Serum anion gap Urine pH Urine ketone Blood glucose Blood urea nitrogen Serum creatinine Ammonia Lactate Pyruvate Plasma amino acid (HPLC) Urine amino acid chromatography Toxicologic tests AST ALT CBC
6.9 15 mmHg 25 3.5 mEq/L 127 mmHg 99 132 mEq/L 2.7 mEq/L 95 mg/dL 33.5 mEq/L 5 +++ 176 mg/dL 34 mg/dL 1 mg/dL 1.0 ng/mL 30 mg/dL 1.59 mg/dL Normal Normal Negative 44 IU/L 39 IU/L Normal
7.35–7.45 35–45
A 3.5 year old boy was admitted with coma, tachypnea and Kussmaul respiration due to high anion gap metabolic acidosis. He had the history of vomiting, confusion and lethargy 4 days following an upper respiratory infection and after 6 days became comatose. There was no history of similar crises, use of any drug and neurodevelopmental delay. He was the first child of a consanguineous marriage of healthy parents. The results of the first laboratory tests are illustrated in Table 1. On third day of admission, following intensive medical therapy including carnitine, the patient was conscious, did not have fever, was not dehydrated, and there was no acidemia or electrolyte imbalance, but his tachycardia was remarkable. Laboratory tests revealed myocardial involvement [creatine phosphokinase (CPK), 885 IU/L (normal, 24–195); CPK-MB, 135 IU/L (0–24); Troponin-I 2.17 lg/dL (<0.1)]. The patient developed ventricular fibrillation while he was admitted in PICU, and fortunately he could be resuscitated. Heart failure became progressively worse. Findings of echocardiography were global left ventricular (LV) dysfunction, low LV ejection fraction (40%), moderately mitral and tricuspid volve regurgitation, pulmonary arterial pressure of 35 mmHg and relatively low tricuspid annular velocity. ECG did not have any evidence of myocardial ischemia. Evidence of pulmonary edema was found on chest X-ray. Management of heart failure did not have any effect, but we increased the dosage of carnitine to 125 mg/kg/24 h with the think of low carnitine in the heart muscle. It surprisingly resulted in completely normal situation in the following morning. Profile of acyl-carnitine in blood (MSMS) and urine organic acids were compatible with methylmalonic acidemia. Serum homocysteine was measured twice and was normal (mean, 5.5 lmol/L, reference value: 3.3–11.3). He discharged from the hospital with protein-restricted diet, carnitine 100 mg/kg/24 h and Vit B12.
135–145 3.5–5.5 98–107 12 ± 2
70–110 5–23 0.5–1.5 <1 4.5–20 0.3–0.9
15–45 15–45
AST, aspartate aminotransferase (SGOT); ALT, alanine aminotransferase (SGPT).
Maryam Razzaghy Azar * Marjan Shakiba Roya I. Tafreshi Iran University of Medical Sciences, H. Aliasghar Hospital, East Dastgerdi Street, Modarres Express Way, Tehran 19164, Iran E-mail addresses: [email protected], [email protected] (M. R. Azar) Mohamed S. Rashed National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Kingdom of Saudi Arabia, MBC 03, P.O. Box 3354, Riyadh 11211, Saudi Arabia E-mail address: [email protected] Received 13 May 2007; accepted 13 May 2007 Available online 25 June 2007 *
1096-7192/$ - see front matter Ó 2007 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2007.05.008
22–28
Corresponding author. Fax: +98 21 66421054.
Letter to the Editor Heart failure in a patient with methylmalonic acidemia
Table 1 Laboratory tests of patient at first visit
Case report
Test
Result
Reference value
Blood pH PaCO2 BE HCO3 PaO2 O2 sat Serum sodium Serum potassium Serum chloride Serum anion gap Urine pH Urine ketone Blood glucose Blood urea nitrogen Serum creatinine Ammonia Lactate Pyruvate Plasma amino acid (HPLC) Urine amino acid chromatography Toxicologic tests AST ALT CBC
6.9 15 mmHg 25 3.5 mEq/L 127 mmHg 99 132 mEq/L 2.7 mEq/L 95 mg/dL 33.5 mEq/L 5 +++ 176 mg/dL 34 mg/dL 1 mg/dL 1.0 ng/mL 30 mg/dL 1.59 mg/dL Normal Normal Negative 44 IU/L 39 IU/L Normal
7.35–7.45 35–45
A 3.5 year old boy was admitted with coma, tachypnea and Kussmaul respiration due to high anion gap metabolic acidosis. He had the history of vomiting, confusion and lethargy 4 days following an upper respiratory infection and after 6 days became comatose. There was no history of similar crises, use of any drug and neurodevelopmental delay. He was the first child of a consanguineous marriage of healthy parents. The results of the first laboratory tests are illustrated in Table 1. On third day of admission, following intensive medical therapy including carnitine, the patient was conscious, did not have fever, was not dehydrated, and there was no acidemia or electrolyte imbalance, but his tachycardia was remarkable. Laboratory tests revealed myocardial involvement [creatine phosphokinase (CPK), 885 IU/L (normal, 24–195); CPK-MB, 135 IU/L (0–24); Troponin-I 2.17 lg/dL (<0.1)]. The patient developed ventricular fibrillation while he was admitted in PICU, and fortunately he could be resuscitated. Heart failure became progressively worse. Findings of echocardiography were global left ventricular (LV) dysfunction, low LV ejection fraction (40%), moderately mitral and tricuspid volve regurgitation, pulmonary arterial pressure of 35 mmHg and relatively low tricuspid annular velocity. ECG did not have any evidence of myocardial ischemia. Evidence of pulmonary edema was found on chest X-ray. Management of heart failure did not have any effect, but we increased the dosage of carnitine to 125 mg/kg/24 h with the think of low carnitine in the heart muscle. It surprisingly resulted in completely normal situation in the following morning. Profile of acyl-carnitine in blood (MSMS) and urine organic acids were compatible with methylmalonic acidemia. Serum homocysteine was measured twice and was normal (mean, 5.5 lmol/L, reference value: 3.3–11.3). He discharged from the hospital with protein-restricted diet, carnitine 100 mg/kg/24 h and Vit B12.
135–145 3.5–5.5 98–107 12 ± 2
70–110 5–23 0.5–1.5 <1 4.5–20 0.3–0.9
15–45 15–45
AST, aspartate aminotransferase (SGOT); ALT, alanine aminotransferase (SGPT).
Maryam Razzaghy Azar * Marjan Shakiba Roya I. Tafreshi Iran University of Medical Sciences, H. Aliasghar Hospital, East Dastgerdi Street, Modarres Express Way, Tehran 19164, Iran E-mail addresses: [email protected], [email protected] (M. R. Azar) Mohamed S. Rashed National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Kingdom of Saudi Arabia, MBC 03, P.O. Box 3354, Riyadh 11211, Saudi Arabia E-mail address: [email protected] Received 13 May 2007; accepted 13 May 2007 Available online 25 June 2007 *
1096-7192/$ - see front matter Ó 2007 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2007.05.008
22–28
Corresponding author. Fax: +98 21 66421054.