Category Archives: Case Studies

Andrew Carlson, Grace Ryan, Jesus Cortes 05/08/2026

Case Study: Adam F.

Case Background

A 24-year-old man, AF, is brought to the ED at 02:47 by his guardian and personal physician, Dr. Victor F., MD, of the University of Ingolstadt. The patient is tall, with extensive surgical scarring of varying ages. Dr. F. is agitated. He refers to the patient as “the specimen,” then corrects himself.

When asked for a medical history, Dr. F. provides one. The dates do not align. The operations do not align. They appear to describe at least three different people. Asked about the patient’s mother, Dr. F. asks which one. The resident does not pursue it. Pharmacy notes that Dr. F. has previously attempted to write standing orders for “electricity, prn.”(pro re nata/as needed). These were declined. On examination, AF is jaundiced and edematous (excess fluid build-up). Last meal: ~14 hours ago. Family history: Dr. F. begins to list contributors. After the eleventh contributor, the resident asks him to stop.

After pointed questioning, Dr. F. notes that during construction “appropriate hepatic (liver) specimens had been in short supply,” and that he had used “what was at hand.” When asked what was at hand, he replies “mostly cat.”…

Anny Vo, Celia Buetens, and John Jeong 

4/3/2026 

Case Study #7: Mitochondrial Citric Acid Cycle Disorder in Skeletal Muscles

Case Background¹ 

A male infant at your hospital has failed a hearing test and developed permanent hearing loss. His development was delayed as shown by an exaggerated Moro response (startle reflex) and his height was below the 3rd percentile. He was given supplemental vitamins, such as thiamine and riboflavin. At 5 months, he had motor weakness and hypotonia. At 10 months, he had feeding problems, recurrent emesis (vomiting), and metabolic acidosis from elevated lactate. 

Lab Findings¹

Key Words: SUCLA2, Anaplerotic Therapy, methylmalonic acid, succinylcarnitine

Analysis 

Q1. Based on the Lactate and Pyruvate lab results, what type of dietary change would you recommend to help reduce the lactic acidosis in this patient?

Biochemistry¹ 

Sanger sequencing revealed that the patient has a compound heterozygous mutation in SUCLA2. Mutations in this gene lead to a deficient succinyl-CoA synthetase, and therefore the accumulation of succinyl-CoA, along with methylmalonic acid and succinylcarnitine, both of which are succinyl-CoA–related metabolites.…

BC368 – Biochemistry of the Cell II

Case Study #5: Focal ABCC8-Related Congenital Hyperinsulinism

Background:

Congenital hyperinsulinism is the leading cause of persistent hypoglycemia in infants and children. In newborns, it can present within hours to days after birth and may cause seizures, hypotonia, poor feeding, or apnea. Focal congenital hyperinsulinism accounts for about 30% to 40% of cases and is caused by a heterozygous ABCC8 or KCNJ11 pathogenic variant inherited from the father together with somatic loss of the maternal 11p15 region in pancreatic tissue. Unlike diffuse disease, focal disease is confined to a limited region of the pancreas and can often be cured if that region is accurately localized and surgically removed.

Case Summary:

A male neonate born after a 40-week term and with a birth weight of 3.16 kg (6.97 lb) was hospitalized in the neonatal intensive care unit for transient tachypnea. On the fifth day of hospitalization, he developed a convulsion and was found to have severe persistent hypoglycemia. There was no maternal history of diabetes. He was started on continuous glucose infusion at 8 to 10 mg/kg/min, and diazoxide was added and titrated to 20 mg/kg/day in an attempt to maintain normoglycemia.

Laboratory Discoveries:

During hypoglycemia, the infant’s plasma glucose was 44 mg/dL, beta-hydroxybutyrate was 0.16 mmol/L with a listed normal value of greater than 1.8 mmol/L, and insulin was 3.7 μU/mL with a stated laboratory reference range of 2.6 to 24.9 μU/mL.…