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MCM - Inborn Errors in Metabolism
Terms in this set (21)
A child presented with severe vomiting, dehydration and fever. History revealed that the
child was born normal but was not growing well from the last few months. There was
progressive mental retardation. Urine analysis revealed the presence of branched amino
acids and their keto acids in high amount. Preliminary results from the blood amino
acids screen showed two elevated amino acids with nonpolar side chains. Blood tests showed acidosis with a low bicarbonate concentration. What is this child suffering from?
Maple syrup urine disease.
Child presents with burnt sugar smelling urine, and ketoacidosis. What enzyme is not working?
Branched Keto Acid Dehydrogenase
Maple syrup urine disease
What is treatment for maple syrup urine disease?
Restrict diet to foods without leucine, isoleucine, and valine.
Child presents with must smelling odor and mental retardation. What enzyme is deficient and what is the disease?
How do you treat PKU?
Restrict dietary phenylalanine!!
How does galactosemia present, and what two enzyme deficiencies cause it?
Presents with sever liver disease, gram negative sepsis, and cataracts
Gal-1-phos uridyl transferase
Where is glucose 6-phosphatase located?
LIVER ONLY not found in muscle.
A 10 y/o girl who had a grossly enlarged abdomen reported to OPD. She has a history of frequent episodes of weakness, sweating and pallor that subsides with eating. Her development had been slow, and doing poorly in the school. Physical exam revealed normal BP, T, and PR but a sun normal weight (23 kg). The liver was enlarged, firm and was descended into pelvis. Lab investigation report revealed, low blood glucose, low pH, and levels of lactate, TGs, Ketones and free FA. The liver biopsy revealed high glycogen content. Enzyme assay performed on the biopsy tissue revealed very low glucose-6-phosphatase levels.
What is the probable diagnosis?
Von Gierkes Disease
What are the 6 glycogen storage diseases?
An infant was brought into the ER after her parents witnessed her having seizures. The child's blood glucose was 28 mmol/L. GSD was suspected and a muscle biopsy was significant for the accumulation of dextrin, a form of glycogen with branching limited to only a few glucose molecules. Which of the following glycogen storage disease is most likely the cause of hypoglycemia and subsequent seizures?
A 3 y/o child presents to the pediatrician for failure to thrive. Ultrasound of his liver shows cirrhosis. A biopsy of liver demonstrates a deficiency of an enzyme involved in glycogen synthesis. Which of the following is the most likely glycogen storage disease?
*Liver cirrhosis is only found in andersens disease when talking about GSDs
A new born is experiencing failure to thrive. On physical examination, organomegaly is appreciated due to accumulation of glycogen in the lysosomes of several organs, including the heart, muscle and liver. A diagnosis of Pompe's disease is made. Which of the following biochemical deficits are seen in this disorder?
A. a-1,6 glycosidase
D. glycogen phosphorylase
E. lysosomal glucosidase
Deficiency in muscle phosphorylase enzyme will result in what GSD?
Deficiency is liver phosphorylase enzyme will result in what GSD?
Cardiac failure in infancy is from what GSD?
A 50 y/o man complains of pain in the joints of his left toe, which are obviously swollen
and tender. The pain has been chronic but became intolerable the day after Thanksgiving when he had a large meal and several glasses of red wine. He is obese, and
his medical history is significant for removal of kidney stones? Which of the following involved in the pathophysiology of this patient's condition?
B. Deficiency of folic acid
C. Elevated orotic acid
D. Elevated uric acid
Elevated Uric Acid
Deficiency in HGPRT is know as what? How will it present?
Self Mutilation, Spastic cerebral palsy, hyperuricemia, and early death
What enzyme converts Xanthine into uric acid?
A 2 y/o boy's mother is concerned about his tendency to bite himself to the point
of bleeding. The boy's fingers show scarring and several scabs, and his lips are swollen and bruised. He exhibits poor coordination, poor muscle tone, and frequent jerking movements of his arms and legs. He is significantly delayed in speech. His urine is orange in color and "gritty". Which of the following is the most likely diagnosis?
A. Cerebral palsy
C. Lesch-Nyhan syndrome
D. Severe combined immunodeficiency
E. Tay-Sachs disease
Self Mutilation and severe gout!
How does a Carnitine deficiency present?
weakness, progressive cardiomyopathy, hypoketotic hypoglycemia
How do you treat a carnitine deficiency?
Reduce long chain FAs
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