Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant

Excerpt

To the Editor: A newborn boy was admitted to the Capital Pediatric Institute Affiliated Children’s Hospital 1 d after birth with feeding refusal and delayed response. He was the mother’s third pregnancy and third birth. The mother’s first child was a boy who died on postnatal day 2 as a result of hypoglycemia, and the second child was a healthy 5-y-old girl, with normal intelligence and physical development. The couple was healthy and had a non-consanguineous marriage; no abnormalities was found in the antenatal examination. The baby showed general malaise, with poor responsiveness, low cry, body odor, low muscle tension and cold extremities, and 5 s capillary refill time (CRT). Laboratory evaluation showed abnormal blood sugar (0.6 mmol/L), elevated serum myocardial enzymology indices and lactic acid levels [Aspartate transaminase (AST) 81.6 U/L, Creatine kinase (CK) 566 U/L, Creatine kinase isoenzymes (CK-MB) 49 U/L, Lactate dehydrogenase (LDH) 418 U/L, Alpha-hydroxybutyrate (HBDH) 311 U/L, Lactic acid (Lac) 6.98 mmol/L]; but showed normal electrolytes, blood lipids, and renal function. B-mode abdominal ultrasound showed polycystic kidneys. Blood tandem mass spectrometry (MS–MS) indicated increased citrulline, tyrosine, C4, C5, C6, C10, C12, C14, C16, C16:1, and C16:1-OH, accompanied by decreased C06 and imbalances of various amino acids. Organic acid urine tests showed significantly increased lactic, glutaric, 2HG, adipic, suberic, sebacic, and 4-hydroxy phenyl lactic acids. Some amino acids, ketone bodies (2HB, 3HB), and organic acids (2HIV, IVG, 4HPP) were also increased. Tracheal intubation and invasive mechanical ventilation were performed immediately to correct the acidosis and circulation, along with intravenous injection of glucose added L-carnitine and vitamin B12. However, the infant died of intractable acidosis 6 d after admission; the alkaline solution treatment had no effect. …