case 7

[md90]

A 6-month-old baby is brought to the pediatrician because she has been feeding poorly and has been lethargic for the past several months. The baby has also started breathing more rapidly than normal and recently had a seizure. Laboratory studies reveal a serum pH of 7.20, an anion gap of 19, elevated levels of pyruvate and alanine, and decreased levels of citrate.

1. What is the most likely diagnosis?
2. what is the pathophysiology of this condition?
3. Why are the alanine levels high and citrate levels low in this condition?
4. What is the most appropriate treatment for this condition?
5. Which are the only purely ketogenic amino acids?

[doc rics]

is it pyruvate dehydrogenase deficiency?

[drAlban]

1. PDH deficiency
2. decreased (Pyruvate-->AcetylCoA) ==> 1- increase pyruvate and its analogue aminoacid (alanin), increased production of lactate (lactic asidodsis, decreased pH so increased RR, increased anion gap)
2- decreased AcetylCoA ==> decreased production of citrate in Krebs c., decreased ATP production so not enought energy for Gluconeogenesis so the baby should have decreased Glucose level : the reason for seizure and lethargy
3.Goto 2.
4.well u should bypass (Pyruvate --> AcetylCoA) and directly make AcetylCoA from a different pathway, the only possible one is Beta-Oxidation of FA, so high intake of FAT, low intake of Carbohydrate (not sure for this one!)
5. LLLLLLLLLL : Lysine, Leucine