Biochemical Disorders Flashcards Preview

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Flashcards in Biochemical Disorders Deck (40):
0

What are characteristics of biochemical disorders?

- 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

1

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

PKU

2

What biochemical disorder has the following recurrent risks:
- turkey 1/2600
- Ireland 1/4,500
- Japan 1/43,000
- Caucasian -/10,000

PKU

3

What biochemical disorder has the following phenotype:
- severe mental retardation starting around age 3-4 months, epilepsy, microcphaly, musty odor, eczema, hypopigmentation

PKU

4

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

PKU

5

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

PKU

6

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

Methylmalonic Aciduria

7

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

Methylmalonic Aciduria

8

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

Methylmalonic Aciduria

9

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

Methylmalonic Aciduria

10

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

Methylmalonic Aciduria

11

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

Ornithine transcarbamylase deficiency (OTC)

12

What biochemical disorder has the following phenotype:
- hyperammonia in the neonate, severe neurological damage

Ornithine transcarbamylase deficiency (OTC)

13

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

Ornithine transcarbamylase deficiency (OTC)

14

What biochemical disorder represents a urea cycle defect?

Ornithine transcarbamylase deficiency (OTC)

15

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

Hereditary fructose intolerance (HFI)

16

What biochemical disorder has the following phenotype:
- acute ingestion: vomiting and hypoglycemia
- chronic ingestion: hepatomegaly and renal dysfunction

Hereditary fructose intolerance (HFI)

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

Hereditary fructose intolerance (HFI)

18

What biochemical disorder is a carbohydrate defect?

Hereditary fructose intolerance (HFI)

19

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

Lesch-Nyhan Syndrome

20

What biochemical disorder has the following phenotype:
- neurologic dysfunction and self-mutilation

Lesch-Nyhan Syndrome

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

Lesch-Nyhan Syndrome

22

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

Lesch-Nyhan Syndrome

23

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

Medium acyl-CoA dehydrogenase (MCAD)

24

What biochemical disorder has he following phenotype:
- lethargy and vomiting following fasting, hypoketonic, hypoglycemia

Medium acyl-CoA dehydrogenase (MCAD)

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?

Medium acyl-CoA dehydrogenase (MCAD)

26

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

Medium acyl-CoA dehydrogenase (MCAD)

27

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

Biotinidase

28

What biochemical disorder has the following phenotype:
- alopecia, dermatitis, deafness, seizures, neurologic deterioration at ~4-6 months old

Biotinidase

29

What biochemical disorder is treated with biotin supplementation?

Biotinidase

30

What biochemical disorder represents a vitamin defect?

Biotinidase

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?

Menke Disease

32

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

Menke Disease

33

What biochemical disorder has the following phenotype:
- severe neurodegenerative disorder, kinky hair

Menke Disease

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

Menke Disease

35

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

Menke Disease

36

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

Tay-Sachs

37

What biochemical disorder has the following phenotype:
- hypotonia, spasticity, seizures, blindness

Tay-Sachs

38

What biochemical disorder is fatal with no treatment?

Tay-Sachs

39

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

Tay-Sachs