Question

Newborn to what was done Expanded Neonatal Metabolic Screen and resulting presumptive positive.

Propionyl-carnitine (C3) = 11.80 μmol / L (Normal <4.00 μmol / L).

The Propionyl-carnitine / Acetyl-carnitine (C3 / C2) ratio = 0.42 (Normal <0.30)

The Propionyl-carnitine / Palmitoyl-carnitine ratio (C3 / C16) = 4.22 (Normal <2.20).

Propionyl-carnitine (C3) concentration and other indicators such as the ratio of C3 with Acetyl-carnitine (C2) or C3 with Palmitoyl-carnitine (C16) are reported dangerous over normal values.

Which is the diagnosis?

Answer 1

Diagnosis:propionic Acidemia.

Propionic Acidemia:

Increase in propionylearnitine (13) Indicate The presence of propionic acidemia on methyl malonic acidemia, Inherited disorder (>10 remolk) prop Ponic acidemia & Inherited disorder present is The Neonatal Period with Neurological deterioration failure to thrine , multiple pathology to renal dysfunction