Biochemical I- ABMG Case Examples

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Inborn errors of metabolism can be inherited in many ways. The MOST common mode of inheritance for this class of disorders is:

A. Autosomal recessive
B. Autosomal dominant
C. X-linked
D. Mitochondrial (maternal)
E. Sporadic
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Terms in this set (10)
Inborn errors of metabolism can be inherited in many ways. The MOST common mode of inheritance for this class of disorders is:

A. Autosomal recessive
B. Autosomal dominant
C. X-linked
D. Mitochondrial (maternal)
E. Sporadic
A
Mitochondrial disorders can be inherited in different ways. The MOST common mode of inheritance for mitochondrial disorders is:

A. Autosomal recessive
B. Autosomal dominant
C. X-linked
D. Mitochondrial (maternal)
E. Sporadic
A
Uric acidemia is TYPICAL of:

A. Lesch-Nyhan disease
B. Acute intermittent porphyria
C. X-linked adrenoleukodystrophy
D. Smith-Lemli-Opitz syndrome
E. Ornithine transcarbamylase (OTC) deficiency
A
High -aminolevulinic acid is not typically seen in any of these disorders EXCEPT:

A. Lesch-Nyhan disease
B. Acute intermittent porphyria
C. X-linked adrenoleukodystrophy
D. Smith-Lemli-Opitz syndrome
E. Ornithine transcarbamylase (OTC) deficiency
B
One would not expect to see elevated levels of long chain fatty acids in any of these disorders EXCEPT:

A. Lesch-Nyhan disease
B. Acute intermittent porphyria
C. X-linked adrenoleukodystrophy
D. Smith-Lemli-Opitz syndrome
E. Ornithine transcarbamylase (OTC) deficiency
C
Low cholesterol levels are TYPICALLY seen in patients with:

A. Lesch-Nyhan disease
B. Acute intermittent porphyria
C. X-linked adrenoleukodystrophy
D. Smith-Lemli-Opitz syndrome
E. Ornithine transcarbamylase (OTC) deficiency
D
High ammonia levels MOST consistent with:

A. Lesch-Nyhan disease
B. Acute intermittent porphyria
C. X-linked adrenoleukodystrophy
D. Smith-Lemli-Opitz syndrome
E. Ornithine transcarbamylase (OTC) deficiency
E
A child has a known propionic acidemia. You would expect to see all of the following EXCEPT:

A. Coma
B. Metabolic acidosis
C. Nausea and vomiting
D. Liver failure
E. High ammonia levels (hyperammonemia)
D
Hypoketotic hypoglycemia (inappropriately low ketones) occurs in many defects of fatty acid oxidation. In which of the following disorders would not NOT expect to see hypoketotic hypoglycemia?

A. Very long chain acyl CoA dehydrogenase (VLCAD) deficiency
B. Long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency C. Long chain ketoacyl CoA thiolase (LCKAT) deficiency
D. Medium chain acyl CoA dehydrogenase (MCAD) deficiency
E. Short chain acyl CoA dehydrogenase (SCAD) deficiency
E
"Expanded newborn screening" by tandem- mass spectrometry is helpful in identifying all of the following classes of disorders EXCEPT:

A. Amino acid disorders
B. Lysosomal storage diseases
C. Organic acidemias
D. Galactosemia
E. Fatty acid oxidation defects
B