Nonketotic hyperosmolar coma is characterized by the following EXCEPT

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Endocrine System Pediatric Questions

Question 1 of 5

Nonketotic hyperosmolar coma is characterized by the following EXCEPT

Correct Answer: B

Rationale: Nonketotic hyperosmolar coma lacks acidosis (B); it features hyperglycemia (A) and dehydration (C).

Question 2 of 5

Inborn errors of metabolism (IEM) are hereditary biochemical disorders caused by single-gene mutations that result in alteration of

Correct Answer: D

Rationale: IEMs result from single-gene mutations altering enzyme function, typically affecting protein structure or production (e.g., enzymes), not chromosomes (A), mitochondria broadly (B), fats (C), or carbohydrates (E) as primary defects.

Question 3 of 5

A 6-year-old boy with eczematoid rash, abnormal face, and prominent maxilla complains from deterioration in school performance, hyperactivity, and seizures for the last 2 years. Of the following, the MOST likely enzymatic deficiency is

Correct Answer: D

Rationale: Phenylalanine hydroxylase deficiency (PKU) causes mental decline, seizures, rash, and facial changes from phenylalanine buildup, unlike lysosomal deficiencies (A, B, C) or tyrosinemia (E).

Question 4 of 5

A 15-month-old boy had recurrent hospital admissions because of fever, jaundice, subcutaneous bleeding, and hypoglycemic fits; on examination, there is hepatomegaly. In the last attack, the child developed severe legs pain associated with retraction of the neck and trunk. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: Tyrosinemia type 1 fits with recurrent fever, jaundice, bleeding, hypoglycemia, hepatomegaly, and neurological symptoms (pain, retraction) from tyrosine accumulation, unlike other conditions (A, B, C, E).

Question 5 of 5

A 6-year-old girl that looks tall and thin with light skin. On examination she has a peculiar malar flush, subluxation of the ocular lens, developmental delay, and severe hypertension. Of the following, the MOST likely cause of hypertension is

Correct Answer: C

Rationale: Homocystinuria’s hypertension often stems from thromboembolism due to homocysteine’s vascular effects, fitting this presentation, unlike atherosclerosis (A), hyperthyroidism (B), coarctation (D), or renal stenosis (E).

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