5th February 2024

An 18-month-old female presents to the metabolic clinic.

An 18-month-old female presents to the metabolic clinic. She was recently admitted to the paediatric ICU after being found unresponsive by her parents. She had been generally unwell 3 days prior to this and had poor feeding. On the day of admission, she had a very poor response to stimuli and refused to feed, prompting admission. Her mother had refused blood spot testing after birth. Hepatomegaly is noted on examination.

Blood glucose on admission was 1.6mmol/L. Venous blood gas showed an acidosis. Low ketone levels were noted. The acylcarnitine test on the newborn spot card was positive. 

Which of the following conditions is the likely underlying diagnosis?