M2C Jeopardy

Amino acids are caused by a problem with the metabolism of

Protein

MSUD is both an amino acid and organic acid disorder due to a defect in the BCAKD enzyme that enzyme that is required to break down 3 branched chain amino acids. What are they, and which is neurotoxic

Leucine, isoleucine, valine. Leucine is neurotoxic

Infants with tyrosemia type 1 usually present clinically with dysfunction of which organ? Urine of infants with tyrosemia type 1 show which pathognomonic analyte

Liver; Succinylacetone

Which amino acid disorder causes physical features similar to those with marfan syndrome, including tall, skinny body habitus, and dislocated lenses of the eye

Homocystinuria

Explain why babies with PKU born to carrier parents are healthy at birth, whereas babies born to mothers with PKU and uncontrolled phe levels may not be

Babies with PKU born to carrier mothers are healthy at birth because the mother's metabolism breaks down Phe until baby is born. Babies (with or without PKU) born to mothers with PKU and uncontrolled Phe levels were exposed to 1.5 times the Phe level of mom, causing maternal PKU syndrome.

Glutaric acidemia type 1 causes significant increased risk for

Stroke

True or false - Children with OA disorders such as MMA and PA can develop metabolic acidosis and hyperammonemia

True

Name 2 types of OA disorders which can successfully be treated with a liver transplantation

MMA, PA, MSUD

What is the C elevation seen in NBS and in an acylcarnitine profile in infants with MMA and PA

C3

Name 2 similarities and 2 differences between MMA and PA

Similarities: AR, same diet, elevated C3 on NBS

Differences: MMA has many subtypes, PA has one. MMA is vitamin B12, PA is riboflavin. MMA has kidney failure, PA has heart failure

What is the primary symptom seen in patients with urea cycle disorders

Hyperammonemia

What is the most common type of urea cycle disorder

OTC deficiency

Male infants with classic, severe OTC deficiency can receive what kind of treatment as a cure

Liver transplantation

Recent natural history study has shown that 50% of females with OTC deficiency feel able to feel able to perform what daily activity

Driving

What is the primary symptom of patients with arginemia, a deficiency of the last enzyme of the urea cycle

Seizures

What oral medication is useful for daily treatment of most patients with FOADs

Creatine/Levo-creatine

Expanded NBS using tandem mass spec (MS/MS) initially began to target which specific FOAD condition

MCAD deficiency

MCAD deficiency was thought to account for 5-10% of which condition before NBS began

Sudden infant death syndrome=SIDS

The fatty acid beta oxidation cycle reduces fatty acid chains by how many chains by how many carbon lengths each time

2

Which of the FOAD conditions takes the longest to sort out with biochemical and molecular testing after abnormal NBS and why?

VLCAD

Which of the 3 general categories of metabolic disease does mito disease fall under

Disorder of energy metabolism

Which organ systems are impacted by mito disease

High energy systems such as brain/CNS, muscles, heart, eyes

Explain the different types of inheritance observed in patients with mitochondrial disorders

Maternal mtDNA and autosomal recessive

Describe aerobic vs anaerobic respiration and differences between them (where and when they occur, which creates more energy, etc.)

Aerobic – Oxygen, pyruvate to acetyl-CoA, through TCA cycle and oxidative phosphorylation. Creates ATP, CO2, and water, happens in cytosol then mitochondria, slower process.

Anaerobic – Absence of oxygen, pyruvate to CO2 and lactic acid, no additional ATP created, only occurs in cytosol, happens very quickly.

Explain how heteroplasmy works in the inheritance of mtDNA

Explanation

What is the organ most impacted by carbohydrate disorders

Liver

What is the name of the type of galactosemia that is common, but benign

Duarte galactosemia

Children with glycogen storage disease (GSD) have a constant threat of developing which symptom

Hypoglycemia

What is the disorder that presents with hemolytic anemia in male infants and is the most common type of enzyme deficiency in the world

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

Why is consideration of genome sequencing recommended for patients with abnormal carbohydrate-deficient transferrin and clinical suspicion for CDG when a molecular panel or exome sequencing is negative?

There are 400 genes involved in glycosylation, and we know disorders only associated with 250 of them