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Investigation Of Human Disease > metabolic disorders 3 > Flashcards

metabolic disorders 3 Flashcards

1
Q

Define Medium-Chain Acyl-CoA Dehydrogen Deficiency (MC)

A

It is a genetic disorder affecting fatty acid metabolism, with a similar frequency to Phenylketonuria (1 in 10,000 induviduals)

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2
Q

How is Medium-Chain Acyl-CoA Dehydrogenase Deficiency inherited?

A

It is inherited in an autosomal recessive manner.

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3
Q

Describe the biochemical defect in Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A

It is caused by mutations in medium-chain acyl-CoA dehydrogenase, with about 90% of cases due to a single mutation affecting enzyme stability.

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4
Q

What are some symptoms of Medium-Chain Acyl-CoA Dehydrogenase Deficiency if left untreated?

A

Symptoms include tiredness, vomiting, sweating, rapid breathing, seizures, and can progress to coma and brain damage.

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5
Q

What are some potential consequences of untreated Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

It can lead to serious and life-threatening problems such as coma, brain damage, and unexpected sudden death.

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6
Q

Describe the importance of early recognition and treatment in Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A

Early recognition and treatment are crucial as the condition can be life-threatening if not managed promptly.

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7
Q

What is the significance of the K304E mutation in Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

The K304E mutation affects the stability of the enzyme and is responsible for about 90% of MCADD cases.

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8
Q

How does Medium-Chain Acyl-CoA Dehydrogenase Deficiency compare in frequency to Phenylketonuria?

A

It has a similar frequency to Phenylketonuria, affecting approximately 1 in 10,000 individuals.

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9
Q

Describe the potential symptoms experienced by individuals with Medium-Chain Acyl-CoA Dehydrogenase Deficiency during illness

A

Symptoms may include tiredness, vomiting, sweating, rapid breathing, and seizures.

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10
Q

What is the risk associated with not being able to eat or tolerate food in individuals with Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

It can lead to serious complications such as coma, brain damage, and even sudden death if not managed appropriately.

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11
Q

How does Medium-Chain Acyl-CoA Dehydrogenase Deficiency affect enzyme stability?

A

The K304E mutation in MCADD affects the stability of the enzyme, contributing to the biochemical defect.

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12
Q

Describe the potential life-threatening nature of Medium-Chain Acyl-CoA Dehydrogenase Deficiency if not recognized and treated promptly

A

It can result in serious consequences such as coma, brain damage, and even unexpected sudden death if not managed quickly.

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13
Q

What is the biochemical basis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

It is caused by mutations in the medium-chain acyl-CoA dehydrogenase enzyme, with a common mutation affecting enzyme stability.

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14
Q

How does Medium-Chain Acyl-CoA Dehydrogenase Deficiency manifest in individuals who are unwell and unable to eat?

A

Symptoms may include tiredness, vomiting, sweating, rapid breathing, seizures, and can progress to more severe complications if left untreated.

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15
Q

Describe the potential consequences of untreated Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A

Untreated MCADD can lead to serious issues like coma, brain damage, and even sudden death.

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16
Q

What are some symptoms that individuals with Medium-Chain Acyl-CoA Dehydrogenase Deficiency may experience if they cannot eat or tolerate food?

A

Symptoms include tiredness, vomiting, sweating, rapid breathing, seizures, and can escalate to more severe problems if not addressed.

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17
Q

How does the K304E mutation contribute to Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

The K304E mutation affects the stability of the enzyme, playing a significant role in the development of MCADD.

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18
Q

Describe the potential symptoms of Medium-Chain Acyl-CoA Dehydrogenase Deficiency if the condition is not promptly recognized and treated

A

Symptoms may include tiredness, vomiting, sweating, rapid breathing, seizures, and can lead to more severe complications like coma and brain damage if untreated.

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19
Q

What is the role of the K304E mutation in the biochemical defect of Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

The K304E mutation affects the stability of the enzyme, contributing to the underlying defect in MCADD.

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20
Q

How does Medium-Chain Acyl-CoA Dehydrogenase Deficiency compare in frequency to other metabolic disorders like Phenylketonuria?

A

It has a similar frequency to Phenylketonuria, affecting approximately 1 in 10,000 individuals.

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21
Q

Describe the potential symptoms individuals with Medium-Chain Acyl-CoA Dehydrogenase Deficiency may experience if they are unwell and unable to eat

A

Symptoms include tiredness, vomiting, sweating, rapid breathing, seizures, and can lead to more severe complications if not managed appropriately.

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22
Q

What are some potential risks associated with untreated Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

Untreated MCADD can result in serious consequences such as coma, brain damage, and even sudden death if not recognized and treated promptly.

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23
Q

Describe the impact of the K304E mutation on the stability of the enzyme in Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A

The K304E mutation significantly affects the stability of the enzyme, contributing to the biochemical defect in MCADD.

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24
Q

How does Medium-Chain Acyl-CoA Dehydrogenase Deficiency present in individuals who are ill and unable to consume food?

A

Symptoms may include tiredness, vomiting, sweating, rapid breathing, seizures, and can progress to more severe complications if not addressed.

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25
Q

Describe the potential outcomes of untreated Medium-Chain Acyl-CoA Dehydrogenase Deficiency

A

Untreated MCADD can lead to serious complications such as coma, brain damage, and even sudden death if not managed promptly.

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26
Q

What are some symptoms that individuals with Medium-Chain Acyl-CoA Dehydrogenase Deficiency may exhibit if they cannot eat or digest food?

A

Symptoms include tiredness, vomiting, sweating, rapid breathing, seizures, and can escalate to more severe issues if not addressed.

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27
Q

How does the K304E mutation influence Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

The K304E mutation impacts the stability of the enzyme, playing a crucial role in the development of MCADD.

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28
Q

Describe the potential symptoms of Medium-Chain Acyl-CoA Dehydrogenase Deficiency if not promptly identified and treated

A

Symptoms may include tiredness, vomiting, sweating, rapid breathing, seizures, and can lead to more severe complications like coma and brain damage if untreated.

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29
Q

What is the function of the K304E mutation in the biochemical defect of Medium-Chain Acyl-CoA Dehydrogenase Deficiency?

A

The K304E mutation affects the stability of the enzyme, contributing to the underlying defect in MCADD.

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30
Q

Describe Medium-Chain Acyl-CoA Dehydrogen Deficiency (MC)

A

A condition where mutations interfere with beta-oxidation, preventing the breakdown of fatty acids to acetyl-CoA and their utilization as an energy source.

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31
Q

What is the role of epinephrine and glucagon in the hydrolysis of triacylglycerol?

A

They stimulate the hydrolysis of triacylglycerol into fatty acids and glycerol.

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32
Q

Define Fatty Acid Oxidation (Beta-oxidation) in mitochondria

A

A process where each pass removes one acetyl moiety in the form of acetyl-CoA.

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33
Q

How do long-chain fatty acids enter mitochondria?

A

They cannot freely diffuse across the mitochondrial membrane, so a specific mechanism is necessary for their entry.

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34
Q

Do all acyl-CoA dehydrogenases (ACDHs) catalyze the same chain lengths of fatty acids?

A

No, there are different isoforms of ACDHs that catalyze very-long-chain, long-chain, medium-chain, and short-chain fatty acids.

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35
Q

Describe the function of the FAD cofactor in Acyl-CoA Dehydrogenase (ACDH) reactions

A

The FAD cofactor serves as an electron acceptor in the oxidation (dehydrogenation) of acyl-CoA.

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36
Q

How do ACDHs exhibit overlapping substrate specificity?

A

They share substrates such as ETF, ETF:QO, UQ, and UQH2, with each isoform having specific preferences.

37
Q

What is the unique substrate for Medium-Chain Acyl-CoA Dehydrogenase (MCAD)?

A

Octanoyl-CoA is specifically a substrate for MCAD.

38
Q

Describe the process of Gluconeogenesis

A

It is the de novo synthesis of glucose in the liver using substrates like amino acids, lactate, and glycerol, but not fatty acids/acetyl-CoA.

39
Q

What are the products of Ketogenesis?

A

Ketone bodies such as acetoacetate, beta-hydroxybutyrate, and acetone, which are formed from acetyl-CoA in the liver.

40
Q

How are ketone bodies generated in the absence of liver function?

A

Ketone bodies are not produced in the liver, but in other tissues, they are converted back to acetyl-CoA for energy production.

41
Q

Define Ketogenesis

A

The process of generating ketone bodies like acetoacetate, beta-hydroxybutyrate, and acetone from acetyl-CoA, primarily occurring in the liver.

42
Q

Describe the formation of ne (exhaled) in the body.

A

Formed from acetyl-CoA generated by β-oxidation in the liver, enters circulation to extrahepatic tissues, and is converted back to acetyl-CoA which enters the citric acid cycle.

43
Q

What are the consequences if children and babies cannot mount a ketotic response during fasting?

A

Severe consequences due to the need to rapidly mount a ketotic response, especially in the context of impaired fatty acid oxidation.

44
Q

Define MCADD and explain its impact during fasting.

A

MCAD deficiency leads to low acetyl-CoA levels due to defective β-oxidation, reduced formation of ketone bodies, and worsened hypoglycemia during fasting.

45
Q

How does MCADD typically present in young children?

A

Young children with MCADD often present with intermittent hypoglycemia/vomiting induced by minor infections, inability to mount a ketotic response to fasting, and characteristic patterns of acyl-carnitine esters in blood/urine.

46
Q

What is the recommended treatment for MCADD?

A

Avoid fasting, follow a high carbohydrate/low fat diet, avoid medium-chain triglycerides, supplement with carnitine, and be vigilant for signs during metabolic stress like vomiting/diarrhea or prolonged fasting.

47
Q

Describe a case of MCAD deficiency in a 16-year-old girl.

A

The 16-year-old girl had her first presentation of MCAD deficiency following an alcoholic binge and subsequent period of starvation, leading to acute encephalopathy progressing to coma.

48
Q

Describe the management of renal, cardiac, and hepatic in the provided content.

A

Managed with intensive supportive care including mechanical ventilation, inotropic support, blood products, and renal replacement therapy.

49
Q

What was the diagnosis confirmed on day 6 in the content?

A

MCAD deficiency.

50
Q

How does alcohol consumption affect gluconeogenesis according to the content?

A

It inhibits gluconeogenesis by accumulating NADH, which inhibits the lactate to pyruvate reaction.

51
Q

Define MCADD pathophysiology as mentioned in the content.

A

It is characterized by dicarboxylic aciduria.

52
Q

What therapy is recommended for MCAD Deficiency according to the content?

A

Carnitine therapy.

53
Q

What is elevated octanoylcarnitine diagnostic of in MCAD deficiency?

A

MCAD deficiency.

54
Q

How is MCADD screening test conducted according to the content?

A

Blood from a “Guthrie” heel prick test is used for acyl-carnitine analysis.

55
Q

Define the purpose of derivatization as butyl esters in acyl-carnitine analysis.

A

It allows amino acid analysis on the same sample preparation and has been validated for newborn screening of various disorders like phenylketonuria.

56
Q

What does the elevation of C8 (octanoyl carnitine) indicate in MCADD detection?

A

MCADD C8 elevated, along with C6 and C10, with internal standards (2H3).

57
Q

Describe the consequences of CTP II deficiency as mentioned in the content.

A

Long-chain acylcarnitines cannot enter the matrix, leading to the accumulation of C16+.

58
Q

What is the consequence of MAD deficiency according to the content?

A

It causes “multiple acylcarnitine dehydrogenase deficiency” leading to Glutaric acidemia type II.

59
Q

How are many other defects in fatty acid metabolism easily detected according to the content?

A

They are easily detected by acyl-carnitine profile in MS/MS analysis.

60
Q

Define the bottleneck in mitochondrial metabolism caused by VLCAD deficiency as per the content.

A

It leads to the accumulation of C14-C18 acylcarnitines.

61
Q

What is the defect in electron transfer proteins that causes consequences similar to other fatty acid metabolism defects?

A

CTP II deficiency.

62
Q

Describe the accumulation pattern of acylcarnitines in MAD deficiency according to the content.

A

It leads to the accumulation of all acylcarnitines.

63
Q

What does the fragment with m/z 85 confirm in MS/MS analysis of acylcarnitines according to the content?

A

It confirms that the precursor ion was an acylcarnitine.

64
Q

How is the diagnosis of MCAD deficiency confirmed through MS/MS analysis?

A

By detecting elevated octanoylcarnitine and other specific acylcarnitines.

65
Q

Define the role of collision-induced dissociation in MS/MS analysis of acylcarnitines.

A

It causes fragmentation of molecules to confirm the presence of specific fragments like m/z 85.

66
Q

What is the significance of elevated carnitine in plasma from oral supplements in MCAD deficiency?

A

It indicates the use of carnitine therapy in managing the deficiency.

67
Q

Describe the process of avoiding dicarboxylic acid formation in MCAD deficiency.

A

By restoring

68
Q

How is the MCADD screening test conducted using blood samples according to the content?

A

It involves analyzing acylcarnitines in blood samples obtained from a “Guthrie” heel prick test.

69
Q

What is the purpose of using internal standards (2H3) in MCADD detection?

A

To aid in the accurate identification of specific acylcarnitines like C8, C6, and C10.

70
Q

Define the role of CPTII/translocase in MCAD deficiency when [Acyl-CoA]/[CoASH] is high.

A

It works in reverse to restore

71
Q

Describe the process of diagnosing MCAD deficiency through acyl-carnitine analysis in MS/MS.

A

By detecting elevated levels of specific acylcarnitines like octanoylcarnitine.

72
Q

What is the significance of elevated octanoylcarnitine in MCAD deficiency diagnosis?

A

It is a key marker indicating the presence of MCAD deficiency.

73
Q

How does VLCAD deficiency lead to the accumulation of C14-C18 acylcarnitines?

A

Due to the inability of these acylcarnitines to enter the mitochondrial matrix.

74
Q

Define the role of collision-induced dissociation in confirming the presence of acylcarnitines in MS/MS analysis.

A

It causes fragmentation of molecules to produce specific fragments like m/z 85, confirming the presence of acylcarnitines.

75
Q

Describe the process of diagnosing MAD deficiency through acyl-carnitine analysis in MS/MS.

A

By detecting the accumulation of all acylcarnitines as a characteristic feature of the deficiency.

76
Q

What is the consequence of MAD deficiency in mitochondrial metabolism according to the content?

A

It essentially causes a “bottleneck” in mitochondrial metabolism due to defects in electron transfer proteins.

77
Q

How are the consequences of CTP II deficiency similar to other fatty acid metabolism defects?

A

They lead to the accumulation of specific acylcarnitines due to the inability of certain acylcarnitines to enter the mitochondrial matrix.

78
Q

Define the purpose of derivatization as butyl esters in acyl-carnitine analysis according to the content.

A

It allows for amino acid analysis on the same sample preparation and is validated for newborn screening of various disorders like phenylketonuria.

79
Q

Describe the process of avoiding the formation of dicarboxylic acids in MCAD deficiency.

A

By restoring the balance of

80
Q

What is the significance of elevated carnitine levels in plasma from oral supplements in managing MCAD deficiency?

A

It indicates the use of carnitine therapy to address the deficiency.

81
Q

How is the MCADD screening test conducted using blood samples as described in the content?

A

It involves analyzing acylcarnitines in blood samples obtained from a “Guthrie” heel prick test.

82
Q

What is the role of derivatization as butyl esters in acyl-carnitine analysis according to the content?

A

It enables amino acid analysis on the same sample preparation and is validated for newborn screening of various disorders.

83
Q

Describe the process of diagnosing MCAD deficiency through acyl-carnitine analysis in MS/MS as outlined in the content.

A

By identifying elevated levels of specific acylcarnitines like octanoylcarnitine.

84
Q

What does the elevation of octanoylcarnitine indicate in the diagnosis of MCADD according to the content?

A

It is a key marker indicating the presence of MCAD deficiency.

85
Q

Define the role of CPTII/translocase in MCAD deficiency when [Acyl-CoA]/[CoASH] levels are high.

A

It operates in reverse to restore the balance of

86
Q

Describe the process of diagnosing MCAD deficiency through MS/MS analysis as per the content.

A

By detecting elevated levels of specific acylcarnitines like octanoylcarnitine.

87
Q

What is the significance of elevated octanoylcarnitine in the diagnosis of MCAD deficiency?

A

It serves as a crucial indicator of the presence of MCAD deficiency.

88
Q

How does VLCAD deficiency lead to the accumulation of C14-C18 acylcarnitines according to the content?

A

Due to the inability of these acylcarnitines to enter the mitochondrial matrix.

89
Q

Describe the process of diagnosing MAD deficiency through acyl-carnitine analysis in MS/MS as per the content.

A

By detecting the accumulation of all acylcarnitines as a characteristic feature of the deficiency.

Investigation Of Human Disease (19 decks)

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