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Inborn error of metabolism: Quiz


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Question 1: ________ codes are provided where available.
International Statistical Classification of Diseases and Related Health ProblemsClinical coderMedical classificationDiagnosis codes

Question 2: ________, adrenal insufficiency, hypogonadism, diabetes mellitus
HypopituitarismHypothyroidismGraves' diseaseHashimoto's thyroiditis

Question 3:
  • E.g., reduction of dietary protein remains a mainstay of treatment for ________ and other amino acid disorders.
    CarnosinemiaIminoglycinuriaMaple syrup urine diseasePhenylketonuria

Question 4: Inborn errors of metabolism comprise a large class of ________ involving disorders of metabolism.
Genetic disorderEpisodic ataxiaAlport syndromeAndrogen insensitivity syndrome

Question 5: Ambiguous genitalia, ________, precocious puberty
HypogonadismHypopituitarismAndrogen insensitivity syndromeDelayed puberty

Question 6: Excessive urination, renal failure, ________, edema
Diabetic ketoacidosisHyponatremiaDehydrationHypernatremia

Question 7: Joint pain, ________ weakness, cramps
Head and neck anatomyMuscleTorsoFascia

Question 8:

Question 9:
  • E.g., thiamine supplementation benefits several types of ________.
    ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseasesDiabetic ketoacidosisHyperkalemiaLactic acidosis

Question 10: He is known for work that prefigured the "one gene, one enzyme" hypothesis, based on his studies on the nature and inheritance of ________.
Type I tyrosinemiaIminoglycinuriaAlkaptonuriaOchronosis


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