Biochemical Disorders

Question 0

What biochemical disorder is caused by phenylalanine hydroxylase deficiency: inability to process Phe into Tyr, Phe build up us toxic?

Answer 0

PKU

Question 1

What are characteristics of biochemical disorders?

Answer 1

• almost all are autosomal recessive
• if the protein is involved in the enzyme, typically these orders are inherited in an autosomal recessive manner
• if the protein mutated is a structural protein, they are often inherited in an autosomal dominant manner

Question 2

What biochemical disorder has the following recurrent risks:

• turkey 1/2600
• Ireland 1/4,500
• Japan 1/43,000
• Caucasian -/10,000

Answer 2

PKU

Question 3

What biochemical disorder has the following phenotype:

- severe mental retardation starting around age 3-4 months, epilepsy, microcphaly, musty odor, eczema, hypopigmentation

Answer 3

PKU

Question 4

Elevation of diagnostic amino acids on amino acid quantification and treated with dietary management is characteristic of what biochemical disorder?

Answer 4

PKU

Question 5

What biochemical disorder is an aminoacidopathy, autosomal recessive and a tetrahydrobiopterian cofactors?

Answer 5

PKU

Question 6

What biochemical disorder has a methymalon1-CoA mutase deficiency: inability to convert methylmalonyl-CoA into succinyl-CoA

Answer 6

Methylmalonic Aciduria

Question 7

What biochemical disorder has a recurrence risk of 1/40,000-1/60,000?

Answer 7

Methylmalonic Aciduria

Question 8

What biochemical disorder causes first week of life acidosis due to buildup of Methylmalonic acid, repeated acidosis episodes may lead to neurologic damage?

Answer 8

Methylmalonic Aciduria

Question 9

What biochemical disorder has elevation of diagnostic organic acid in urine, treated by diet low in protein and liver transplant?

Answer 9

Methylmalonic Aciduria

Question 10

What biochemical disorder is an organic acid disorder, autosomal recessive, B12 cofactor?

Answer 10

Methylmalonic Aciduria

Question 11

What biochemical disorder is Ornithine transcarbamylase deficient: inability to convert carbamyl phosphate into Ornithine?

Answer 11

Ornithine transcarbamylase deficiency (OTC)

Question 12

What biochemical disorder has the following phenotype:

- hyperammonia in the neonate, severe neurological damage

Answer 12

Ornithine transcarbamylase deficiency (OTC)

Question 13

What biochemical disorder has elevation of ammonia and diagnostic amino acid, treated by low protein diet, ammonia scavenger meds, and liver transplant

Answer 13

Ornithine transcarbamylase deficiency (OTC)

Question 14

What biochemical disorder represents a urea cycle defect?

Answer 14

Ornithine transcarbamylase deficiency (OTC)

Question 15

What biochemical disorder is fructoaldolase deficient: inability to metabolize fructose to glucose?

Answer 15

Hereditary fructose intolerance (HFI)

Question 16

What biochemical disorder has the following phenotype:

• acute ingestion: vomiting and hypoglycemia
• chronic ingestion: hepatomegaly and renal dysfunction

Answer 16

Hereditary fructose intolerance (HFI)

Question 17

In what biochemical disorder is the treatment avoidance of corn, fruit, sweet potatoes, corn syrup, all desserts with sugar, all bread, some lunch meats, table sugar

Answer 17

Hereditary fructose intolerance (HFI)

Question 18

What biochemical disorder is a carbohydrate defect?

Answer 18

Hereditary fructose intolerance (HFI)

Question 19

What biochemical disorder has a defect in hypoxanthine-guanine phosphoribosyltransferase activity (HGPRT)

Answer 19

Lesch-Nyhan Syndrome

Question 20

What biochemical disorder has the following phenotype:

- neurologic dysfunction and self-mutilation

Answer 20

Lesch-Nyhan Syndrome

Question 21

What biochemical disorder is diagnosed based on symptoms and treated w/ low purine diet, allopurinol, and meds for treatment of neurologic signs and symptoms

Answer 21

Lesch-Nyhan Syndrome

Question 22

What biochemical disorder is a purines/pyrimidine disorder, more common in boys b/c X-linked recessive

Answer 22

Lesch-Nyhan Syndrome

Question 23

What biochemical disorder has a medium acyl-Coa dehydrogenase deficiency: medium chain fatty acids cannot be broken down into ketones?

Answer 23

Medium acyl-CoA dehydrogenase (MCAD)

Question 24

What biochemical disorder has he following phenotype:

- lethargy and vomiting following fasting, hypoketonic, hypoglycemia

Answer 24

Medium acyl-CoA dehydrogenase (MCAD)

Question 25

What biochemical disorder has the diagnostic of intermediates on urine organic acid quantitation (part of new born screening test) treated by avoidance of fasting and rapid treatment of hypoglycemia?

Answer 25

Medium acyl-CoA dehydrogenase (MCAD)

Question 26

What biochemical disorder is the most common fatty acid oxidation disorder, autosomal recessive?

Answer 26

Medium acyl-CoA dehydrogenase (MCAD)

Question 27

What biochemical disorder has a biotinidase deficiency: unable to reclaim biotin from the diet causing biotin insufficiency?

Answer 27

Biotinidase

Question 28

What biochemical disorder has the following phenotype:

- alopecia, dermatitis, deafness, seizures, neurologic deterioration at ~4-6 months old

Answer 28

Biotinidase

Question 29

What biochemical disorder is treated with biotin supplementation?

Answer 29

Biotinidase

Question 30

What biochemical disorder represents a vitamin defect?

Answer 30

Biotinidase

Question 31

What biochemical disorder is caused by a mutation of ATP7A gene located on chromosome Xq12-q13: leads to inability to absorb copper across the intestinal epithelium?

Answer 31

Menke Disease

Question 32

What biochemical disorder has a recurrence risk of 1/254,000

Answer 32

Menke Disease

Question 33

What biochemical disorder has the following phenotype:

- severe neurodegenerative disorder, kinky hair

Answer 33

Menke Disease

Question 34

What biochemical disorder is diagnosed by low ceruloplasmin and copper and has copper histidinate infusion treatment under investigation, most children die in the 1st year of life

Answer 34

Menke Disease

Question 35

What biochemical disorder is an example of a mineral defect, mostly seen in boys b/c X-linked recessive

Answer 35

Menke Disease

Question 36

What biochemical disorder has a mutation of beta-hexoaminidase: causes defective activity of hexosaminidase A which degrades GM-gangliosides?

Answer 36

Tay-Sachs

Question 37

What biochemical disorder has the following phenotype:

- hypotonia, spasticity, seizures, blindness

Answer 37

Tay-Sachs

Question 38

What biochemical disorder is fatal with no treatment?

Answer 38

Tay-Sachs

Question 39

What biochemical disorder is an example of a lysosomal storage disorder. Higher incidence in communities with breeding restrictions

Answer 39

Tay-Sachs