Metabolism — Flashcards

What is the normal range for 24-hour urine sodium?

What is the normal range of CSF gamma globulin?

What is the normal range of IgG, serum?

What is the normal range of Urine: 17-Hydrocorticosteroids (Male)?

What is the normal range of Urine: 17-Hydrocorticosteroids (Female)?

What is the normal range of CSF: Glucose?

A study is being performed that includes certain men -Further analysis shows that these men have an X-linked mutation affecting the phosphoribosyl pyrophosphate (PRPP) synthetase gene. -This lead to increased substrate conversion. -What organ is most likely to develop pathology secondary to this mutation?

A 2 y/o boy is being evaluated for failure to thrive and developmental delay. - Past Medical history: recurrent ear infection since age 6 months. - Physical Exam: coarse facial features, corneal clouding, hepatosplenomegaly and restricted joint mobility. - Mass spectrometry analysis: Deficient phosphorylation of mannose residues on certain glycoproteins in the Golgi apparatus. - Normally, these proteins are most likely to be transported to which cellular location?

What are the symptoms of deficiency of the following vitamins and substances? - Ascorbic acid - Biotin - Linoleic acid - Vitamin K - Zinc

Xylulose-5-phosphate is an intermediate in which metabolic pathway?