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AUBF > 7.2 OTHER METABOLIC DISORDERS > Flashcards

7.2 OTHER METABOLIC DISORDERS Flashcards

1
Q

Which category of disorders involves abnormalities in the heme synthesis pathway and can lead to photosensitivity or neurological symptoms?

A

Porphyrin Disorders

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2
Q

Which group of disorders results from the incomplete breakdown of glycosaminoglycans, leading to their accumulation in tissues and urine?

A

Mucopolysaccharide Disorders (MPSs)

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3
Q

What type of disorders are characterized by abnormalities in purine metabolism, often resulting in excessive uric acid excretion?

A

Purine Disorders

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4
Q

Which category of disorders is associated with abnormalities in sugar metabolism, often detected by the presence of reducing sugars in the urine?

A

Carbohydrate Disorders

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5
Q

Which inherited porphyria is associated with red-stained teeth and port wine-colored urine?

A

Congenital erythropoietic porphyria.

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6
Q

Which porphyria is most associated with acute attacks and increased porphobilinogen?

A

Acute intermittent porphyria

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7
Q

What is the most common acquired porphyria caused by chronic alcohol intake and liver disease?

A

Porphyria cutanea tarda.

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8
Q

Which porphyria is caused by lead poisoning and results in the inhibition of multiple enzymes in the heme pathway?

A

Lead-induced porphyria.

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9
Q

What disorder of purine metabolism causes excessive uric acid excretion, self-destructive behavior, and severe motor defects?

A

Lesch-Nyhan disease

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10
Q

Which mucopolysaccharidosis involves corneal clouding, skeletal abnormalities, and intellectual disability?

A

Hurler syndrome

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11
Q

What sex-linked mucopolysaccharidosis is associated with skeletal abnormalities but no corneal clouding?

A

Hunter syndrome

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12
Q

Which mucopolysaccharidosis results primarily in intellectual disability without physical abnormalities

A

Sanfilippo syndrome.

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13
Q

What disorder is caused by a deficiency in galactose-1-phosphate uridyl transferase (GALT) and can lead to severe symptoms in infants?

A

Galactosemia

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14
Q

Which disorder of carbohydrate metabolism can cause cataracts in adulthood if untreated?

A

Galactose kinase deficiency.

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15
Q

What are the three primary porphyrins in heme synthesis?

A

Uroporphyrin, coproporphyrin, and protoporphyrin.

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16
Q

Which porphyrin precursors are most soluble and appear in the urine?

A

Aminolevulinic acid (ALA) and porphobilinogen

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17
Q

Which porphyrin is not excreted in the urine but analyzed in feces or bile?

A

Protoporphyrin

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18
Q

What test does the CDC recommend for screening lead poisoning?

A

Free erythrocyte protoporphyrin (FEP) test in whole blood

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19
Q

What causes port wine-colored urine in porphyrias?

A

Oxidation of porphyrins in the urine upon exposure to air

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20
Q

What is the difference in symptoms between neurological and cutaneous porphyrias?

A

Neurological: psychiatric/neurological issues; Cutaneous: photosensitivity

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21
Q

What inherited porphyria is associated with red-stained teeth?

A

Congenital erythropoietic porphyria.

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22
Q

What is the purpose of the Ehrlich reaction in porphyrin testing?

A

Detects ALA and porphobilinogen

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23
Q

What color fluorescence indicates a positive porphyrin reaction?

A

Violet, pink, or red.

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24
Q

What are the primary mucopolysaccharides found in urine in MPSs?

A

Dermatan sulfate, keratan sulfate, and heparan sulfate

25
Q

What inheritance pattern is seen in Hunter syndrome?

A

Sex-linked recessive

26
Q

What screening tests detect mucopolysaccharides in urine?

A

Acid-albumin and CTAB turbidity tests.

27
Q

What advanced method is used for qualitative analysis of MPSs?

A

Liquid chromatography-tandem mass spectrometry (LC-MS/MS).

28
Q

What enzyme deficiency causes Lesch-Nyhan disease?

A

Hypoxanthine-guanine phosphoribosyltransferase.

29
Q

What are the first signs of Lesch-Nyhan disease in infants?

A

Orange sand-like uric acid crystals in diapers

30
Q

What symptom is characteristic of Lesch-Nyhan disease besides uric acid accumulation?

A

Self-destructive behavior.

31
Q

What is the primary concern in galactosuria?

A

Inability to metabolize galactose, leading to galactosemia.

32
Q

Which enzyme deficiency causes severe galactosemia?

A

Galactose-1-phosphate uridyl transferase (GALT).

33
Q

What test is used in newborn screening for GALT deficiency?

A

Enzyme measurement in red blood cells.

34
Q

Which reducing substance test can suggest a carbohydrate metabolism disorder?

A

Clinitest for reducing substances

35
Q

What dietary change can prevent severe symptoms of galactosemia?

A

Removal of lactose from the diet.

36
Q

What historical legend is linked to porphyria symptoms?

A

Vampires (e.g., avoidance of sunlight and port wine-colored urine).

37
Q

What inheritance factor contributed to porphyria among European royals?

A

Intermarriage and small gene pools.

38
Q

What porphyria is most associated with acute attacks?

A

Acute intermittent porphyria.

39
Q

What is the hallmark symptom of cutaneous porphyrias like porphyria cutanea tarda?

A

Photosensitivity leading to skin blistering and scarring upon sun exposure

40
Q

What are the clinical manifestations of acute intermittent porphyria?

A

Severe abdominal pain, vomiting, neuropsychiatric symptoms (anxiety, psychosis)

41
Q

Which test detects ALA and porphobilinogen in urine?

A

Ehrlich reaction

42
Q

Which diagnostic method is used to measure porphyrins in urine for porphyrin disorders?

A

High-pressure liquid chromatography (HPLC)

43
Q

What is the treatment for acute attacks of porphyria?

A

Intravenous glucose and heme therapy, along with avoiding triggers like alcohol or medications

44
Q

Which substances accumulate in the urine in mucopolysaccharide disorders?

A

Dermatan sulfate, keratan sulfate, and heparan sulfate

45
Q

Which two MPS disorders involve severe intellectual disability and skeletal abnormalities?

A

Hurler syndrome and Hunter syndrome

46
Q

What is a key feature of Sanfilippo syndrome?

A

Intellectual disability without severe skeletal abnormalities

47
Q

What diagnostic tests are used to screen for mucopolysaccharide disorders?

A

Acid-albumin test, cetyltrimethylammonium bromide (CTAB) turbidity test, and metachromatic staining spot test

48
Q

What modern diagnostic method is used to confirm MPSs?

A

Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

49
Q

What enzyme deficiency causes Lesch-Nyhan disease?

A

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

50
Q

What are the clinical symptoms of Lesch-Nyhan disease?

A

Severe motor defects, intellectual disability, self-destructive behavior, gout, and renal calculi

51
Q

What is a key sign of Lesch-Nyhan disease in infants?

A

Orange sand-like uric acid crystals in diapers

52
Q

What complications are commonly associated with Lesch-Nyhan disease?

A

Gout, kidney stones, and psychiatric symptoms

53
Q

How is Lesch-Nyhan disease diagnosed?

A

Urinary excretion of uric acid crystals and genetic testing for HGPRT deficiency

54
Q

What enzyme deficiency is most commonly associated with severe symptoms of galactosemia?

A

Galactose-1-phosphate uridyl transferase (GALT)

55
Q

What are the common symptoms of galactosemia in infants?

A

Failure to thrive, liver damage, cataracts, and intellectual disability

56
Q

What is the result of GALK (galactokinase) deficiency?

A

Cataracts in adulthood without severe developmental symptoms

57
Q

Which other sugars can lead to melituria, besides galactose?

A

Lactose, fructose, and pentose

58
Q

What is the screening test for galactosemia in newborns?

A

Measurement of GALT enzyme activity in red blood cells

59
Q

What diagnostic test is used for diagnosing galactosemia and other carbohydrate metabolism disorders?

A

Chromatography to identify the specific sugars in urine

AUBF (22 decks)

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