Upon presentation: An 18-month-old female arrives by ambulance at the emergency department. The paramedics report that there was no known history of any recent trauma, and no known fever, vomiting, or other unusual behavior.
18-month-old female arrives by ambulance at the emergency department
Upon presentation: An 18-month-old female arrives by ambulance at the emergency department. The paramedics report that there was no known history of any recent trauma, and no known fever, vomiting, or other unusual behavior. There were no known ingestions or medications in the household.
There was no evidence of trauma.
Interview and History: At 9 PM the previous night, Ella was described by her mother as appearing more quiet than usual. They had spent the day traveling from the grandmother’s house and Ella had been carsick so had not eaten very much during the day. When they got home, Ella had some water and went to bed. Ella slept longer than usual and was found unresponsive by her mother at 9 AM. At this time her mother called 911.
1) Blood glucose: 23 mg/dL (normal range 90 – 125 mg/dL)
2) Repeat blood glucose: 50 mg/dL following administration of glucagon
3) Urinary acids: Markedly elevated levels of glutaric, ethylmalonic, and dicarboxylic acids; ketones absent
4) Finally, Serum free fatty acids: 0.84mmol/L (normal range: 0.00-0.72 mmol/L)
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She was transferred to the pediatric intensive care unit and remained comatose for 16 hours. Blood glucose levels remained stable with a continuous infusion of dextrose. Inpatient treatment consisted primarily of glucose supplementation and supportive care.
In this individual, at the time of presentation, what is the relative ratios of the following hormones: insulin epinephrine glucagon cortisol . Based on the data presented above. This individual most likely has a primary deficiency in which of the following pathways. Please describe why you choose a specific pathway and why you DID NOT choose other pathways.
d. Glycogen synthesis
h. Protein catabolism
Based on your choice above, would the use of carnitine supplementation be of any benefit to your patient? (Review the role of carnitine!)
A 53-year-old male with past medical history of obesity (BMI of 38 kg/m
2) and borderline diabetes presents to you with abnormal liver enzymes (ALT/AST) discovered 6 months ago. His family history is significant for liver cirrhosis. On physical examination you notice mild hepatomegaly (enlarged liver).
A panel of lab tests revealed the following: aspartate aminotransferase (AST) 106 (normal range 10 – 40 U/L), alanine aminotransferase (ALT) 118 (normal range 7 – 56 U/L), with normal bilirubin (generated from the breakdown of hemoglobin). He had a liver ultrasonography that showed diffuse increase in echogenicity and vascular blurring consistent with fatty infiltration. You suspect nonalcoholic fatty liver disease (NAFLD).
Under normal conditions, describe the metabolism and maturation of VLDL particles.
Describe how NAFLD could manifest and what potential processes could be impaired in order for this disease process to occur (consider both enzymatic and hormonal impairments).
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A 20-year old, female presents to the dermatologist with complaints of multiple, small to large (2 mm to
3 cm) soft, asymptomatic yellow colored nodular lesions all over the body since the age of 2 years. She was subsequently refer for biochemical investigations, where an alter lipid profile was notice.
A detailed history from the parents revealed that the patient developed the swellings since the age of 2 years, which gradually increased to the present size. At the age of 3 years, patient was treated by a local doctor but the symptoms did not subside. There is no history of chest pain, breathlessness, hypertension, diabetes mellitus, or any other chronic illness.
Family history: Maternal side shows history of sudden deaths at a young age (36–44 years) (Mother’s elder brother and all his 3 sons have died at an early age due to possible myocardial infarction).
Lipid profile of the patient:
Firstly, Total cholesterol (mg/dl) 580
Secondly, Triglycerides (mg/dl) 134
Thirdly, LDL (mg/dl) 460
Fourthly, HDL (mg/dl) 93
Further, VLDL (mg/dl) 27
Additionally, LDL/HDL ratio 4.94
Moreover, Please describe a potential underlying mechanism for the elevated cholesterol levels found in this individual.
Triglycerides are within normal values in this individual. Describe how triglyceride levels would be normal but cholesterol levels could be elevated in this individual.
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