This is a female newborn, weighing 3,140 g, perimeter of 37 cm and thoracic perimeter of 34 cm. The mother was 40 years old, G6P6A1, and the birth was by cesarean section.
The Apgar score was 8 at 1 minute and 10 at 5 minutes.
Among the important antecedents it was found that parents were second-degree relatives from Boyacá.
The first pregnancy was a live 22-year-old child with another partner; the second pregnancy, undiagnosed neonatal death; the third pregnancy, abortion; the fourth pregnancy, twin, a stillbirth with neonatal hydrops fetal apnea and neonatal insufficiency.
Simple cerebral scan at five days of age showed hypoplasia of the periventricular white matter around the frontal horns.
The newborn presented here was admitted to the hypotonic hypoactive unit with poor suction, reduced response to stimuli, without respiratory distress, with normal saturation.
The patient presented hypoglycemia, increased lactate 2.7 mmol/l, ketonuria traces, mild metabolic acidosis with anion gap in 21, and chronic cough in 182 μmol/l.
Bacteremia and central nervous system infection were ruled out.
Echocardiography was normal, as was neonatal TSH.
The patient was referred to our institution with suspected metabolic disease at 11 days of life, weighing 3,200 g, height of 50 cm, perimeter of 36 hypo cm, chest perimeter of 31 cm, and hypoactivity.
Hypoglycemia was documented.
He had anemia, leukopenia and thrombocytopenia.
Klebsiella pneumoniae infection was documented and treated.
In the metabolic study, positive ferric chloride and glutamine band were found in the plasma and urine amino acid chromatography; the authentic acid was 63.9 micromol/l (normal value: 9 to 33).
Transfontanellar and abdominal ultrasound were normal.
In the tandem mass spectrometry study performed by Pediatrix Screening the following was found:
Carnitine acylcarnitine profile: propionylcarnitine (C3): 7.7 micromol/ l; carnitine propionyl-carnitine (C3/ C2):
Amino acid profile: within normal limits.
With these results the diagnosis of organic acidemia, ionic or methylmalonic acid was proposed.
With the findings of low free carnitine, low total carnitine, presence of propionylcarnitine and absence of C4 acylcarnitine-dicarboxylic acid, it was possible to conclude that an acid was treated.
Management was initiated with carnitine, vitamin B12 and protein-restricted diet.
The patient was discharged with the same treatment.
A month and a half of life he was admitted due to intolerance to the oral route and neurological compromise.
Metabolic acidosis with increased anion gap, anemia, leucopenia and thrombocytopenia was documented.
She was transfused.
There was neurological deterioration, the anesthesiologist was in 278 micromol/l.
It was left without protein intake for 48 hours.
The fixed amount ascended to 545 μmol/l, and extracorporeal transfusion was performed, resulting in a decrease in atrial fibrillation.
Protein intake was restarted, presenting convulsive picture with hyponatremia, hypocalcemia, anemia, leucopenia, thrombocytopenia, prolongation of coagulation times, increase in medical aminotransferases and non-multiple commitment.
