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Chapter 8. Metabolism

In regards to inborn errors of metabolism:

A. the original description was by Aborigines with a urine taste test.

B. these are most commonly inherited as dominant disorders.

C. disease can be caused by a deficiency of product upstream from the enzymatic block.

D. disease can be caused by a surplus of metabolites downstream from the enzymatic block.

E. deficiency of downstream product can cause disease.

E is the correct answer.

The original description of IBEMs was by Garrod in the early 1900s. Metabolic blocks produce a deficiency of product after the block and an excess of precursor before the block.

A 10-day-old infant presents with poor feeding, vomiting, and lethargy. Sepsis (overwhelming bacterial infection in the blood) is suspected. A look at the prior history reveals normal pregnancy and delivery. The child was discharged after 48 hours of life. Over the next week, the baby became progressively more ill. If a genetic disease such as inborn errors of metabolism is suspected, which of the following is least informative?

A. Family history of neonatal deaths.

B. Family history of consanguinity.

C. Infant's feeding/dietary history information.

D. Any unusual odors.

E. Chromosomal analysis.

E is the correct answer.

Inborn errors of metabolism are due to monogenic abnormalities. Chromosome testing is almost always normal. The infant described most likely has galactosemia. Thus, family history, feeding history, and maybe even odors will be important clues.

Inborn errors of metabolism may have a plethora of presentations. Which one of the following is one such presentation?

A. Overgrowth.

B. Jaundice/high bilirubin levels.

C. Tumor formation.

D. Enlarged muscles.

E. Enhanced intellectual functioning.

B is the correct answer.

While the presentation of IBEMs is quite broad in the range of problems seen, jaundice is the only one of the symptoms listed that is a common indication of a metabolic problem (see Tables 8-4, 8-5, 8-6, 8-7)

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Table 8-4. Presenting Clinical Symptoms of Metabolic Disorders: Prenatal
Fetal hiccups
Fetal seizures (may be perceived by mother ...

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