IEM: diagnostic tests

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IEM: diagnostic tests by Mind Map: IEM: diagnostic tests

1. Plasma amino acid

1.1. Confirm the diagnosis of urea cycle and other amino acid metabolism(PKU in babies)

1.2. Performed by two mechanism

1.2.1. High pressure liquid chromatography

1.2.2. Mass spectrometry

2. Lactate and pyruvaye

2.1. Normal ratio of lactate to pyruvate 10:1 to 20:1

2.2. Lactate to pyruvate ration typically is

2.2.1. High in mitochondrial disorders and in pyruvate carboxylase deficiency

2.2.2. Normal or low in GSDs and pyruvate dehydrogenase deficiency

2.3. Should be measured in arterial blood

2.4. Sample must be collected in perchlorate

2.5. Babies with abnotmal arterial lactate and puryvate values may benefit from the following testes

2.5.1. Triglycerides and uric acid

2.5.2. Brain MRI and magnetic resonance spectroscopy

2.5.3. Echocardiogram

3. Urine organic acids

3.1. Analysis of organic acids in urine is performed by

3.1.1. Gas chromatography(GC)

3.1.2. Mass spectrometry(MS)

4. Other diagnostic test for IEM

4.1. Eye examination

4.2. Echocardiogram

4.3. Lumbar puncture