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L23+24 - Inborn Errors of Metabolism

The lecture covers various inborn errors of metabolism, including phenylketonuria, glycogen storage disease, and ornithine transcarbamylase deficiency. It discusses clinical presentations, laboratory findings, and differentiates between conditions based on symptoms and test results. Additionally, it addresses misconceptions about the associations and characteristics of these metabolic disorders.

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معاوية محمد
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11 views4 pages

L23+24 - Inborn Errors of Metabolism

The lecture covers various inborn errors of metabolism, including phenylketonuria, glycogen storage disease, and ornithine transcarbamylase deficiency. It discusses clinical presentations, laboratory findings, and differentiates between conditions based on symptoms and test results. Additionally, it addresses misconceptions about the associations and characteristics of these metabolic disorders.

Uploaded by

معاوية محمد
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Lecture: Inborn Errors of Metabolism

Done by: Nour Zaid


Inborn Errors of Metabolism
Q1) Something wrong about phenylketonuria
An. Increase tyrosine
Q2) One of the following is false regarding PKU :
An. Increase tyrosine level
Q3) A 6-month-old girl was brought to the ER with generalized seizure. She is
the first child to 1st cousin parents. She was found to have rapid deep
breathing, dolls like facies, with hepatomegaly. Her labs showed metabolic
acidosis, hypoglycemia, increased uric acid and hyperlipidemia, the most likely
diagnosis is
An. Glycogen storage disease I
Q4) A 3 year old girl was brought to the ER on a second occasion with history of
seizure and hypoglycemia. Physical examination was unremarkable.
Investigations showed blood sugar of 45mg/dl , normal C peptide, elevated
insulin, serum acetone negative, normal cortisol and glucagon. Urine ketones
were negative. The most likely diagnosis is
An. Fictitious hyperinsulinemia
Q5) All of the following are associated with inborn error of metabolism EXCEPT:
A- Parental consanguinity
B- Usually X-linked
C- Sever metabolic acidosis
D- Persistent vomiting
E- Seizure
An. B
Q6) Child with Physical impairments, reduced pigmentation of hair, skin and iris
? ‫همم‬
An. Phenylketonuria
Q7) Female child with hyperammonemia ,lethargy, seizures, developmental
delay with history of death her male sibling ? ‫همم‬
An. Ornithine transcarbamylase (OTC) deficiency
Q8) Newborn Screening test in Jordan? ‫همم‬
An. congenital hypothyroidism
Q9) Tyrosenemia test? ‫همم‬
An. Succenacetone in blood
Q10) How to differentiate between retrectile testis and undesceded testis?‫احتياط‬
An. you can move retrectile testis down into the scrotum
Q11) One of the following is not a cause of primary lactic acidosis:
A. Organic acidemias.
B. Sepsis.
C. Pyruvate metabolism defect.
D. Glycogen storage disease.
E. Mitochondrial diseases.
An. B
Q12) All are amino acid except
An. Serotonin
Q13) Glycogen storage disease type 1 presents with all of the following except
A. Hyperglycemia.
B. Hyperlipidemia.
C. Hypoglycemia.
D. Hyperlipidemia.
E. Lactic acidosis.
An. A
Q14) All are true about Hurler disease except:
A. Dysostosis multiplex is characteristic.
B. It is an autosomal recessive disease. problems are common causes of
death.
C. Cardiac and respiratory
D. Valvular heart disease is common.
E. Enzyme replacement therapy is curable
An. E
Q15)

Q16)

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