Module 5-6 Review ChatGPT Flashcards
(154 cards)
1
Q
What are the primary fuel sources in myocytes, neurons, and erythrocytes during a keto diet
A
Fatty acids in myocytes, ketone bodies in neurons, and glucose in erythrocytes
2
Q
What is the primary fuel used by the brain during prolonged fasting
A
Ketone bodies
3
Q
What are the 4 main promoting and 2 inhibitory effects of insulin in the fed state
A
Glucose uptake, glycogen synthesis, lipogenesis, and protein synthesis
Gluconeogenesis and glycogenolysis
4
Q
What triggers glycogenolysis and gluconeogenesis during fasting
A
The release of glucagon and epinephrine
5
Q
What is the role of glucagon during prolonged fasting
A
Lipolysis
Ketogenesis
Gluconeogenesis
6
Q
What are the main differences between saturated and unsaturated fats
A
Saturated fats have no double bonds and are typically solid at room temperature, while unsaturated fats have one or more double bonds and are typically liquid
7
Q
What promoting (3) and inhibitory (1) effects does cortisol have on metabolism
A
Gluconeogenesis, proteolysis, and lipolysis
Glucose uptake in peripheral tissues
8
Q
What promoting (2) and inhibitory (1) roles does epinephrine play in fuel mobilization
A
Rapidly mobilizes energy by increasing glycogenolysis and lipolysis
Insulin secretion
9
Q
What is the significance of malonyl-CoA in fatty acid metabolism
A
Malonyl-CoA inhibits carnitine palmitoyltransferase I (CPT I), preventing fatty acid oxidation
10
Q
What is the function of the pyruvate dehydrogenase complex
A
The pyruvate dehydrogenase complex converts pyruvate to acetyl-CoA, linking glycolysis to the TCA cycle
11
Q
What effect does arsenic have on pyruvate dehydrogenase
A
Arsenic inhibits the pyruvate dehydrogenase complex by binding to dihydrolipoamide, leading to reduced activity and lactic acidosis
12
Q
What is the result of a deficiency in glucose-6-phosphate dehydrogenase (G6PD)
A
G6PD deficiency leads to hemolytic anemia, especially under oxidative stress, due to impaired NADPH production
13
Q
What are the key points to remember about the TCA cycle
A
The TCA cycle generates NADH and FADH2 for the electron transport chain, produces GTP/ATP, and is crucial for energy production
14
Q
What are the effects of electron transport chain (ETC) uncoupling
A
ETC uncoupling dissipates the proton gradient as heat, reducing ATP production and increasing thermogenesis
15
Q
What are the key inhibitors of Complex I in the ETC
A
Rotenone and Amytal
16
Q
What are the key enzymes that circumvent gluconeogenesis
A
Pyruvate carboxylase, PEPCK, fructose-1,6-bisphosphatase, and glucose-6-phosphatase
17
Q
What is the significance of fructose 2,6-bisphosphate in metabolism
A
Fructose 2,6-bisphosphate regulates glycolysis and gluconeogenesis, activated by insulin and inhibited by glucagon
18
Q
What is the role of insulin in glycogen metabolism
A
Insulin stimulates glycogen synthesis and inhibits glycogenolysis
19
Q
What are the primary effects of glucagon and epinephrine on glycogen metabolism
A
Both hormones stimulate glycogenolysis and inhibit glycogen synthesis
20
Q
What is the role of fatty acid synthase
A
Fatty acid synthase catalyzes the synthesis of fatty acids from acetyl-CoA and malonyl-CoA in the cytoplasm
21
Q
What is the impact of a deficiency in medium-chain acyl-CoA dehydrogenase (MCAD)
A
MCAD deficiency leads to hypoglycemia and the accumulation of medium-chain fatty acids during fasting or illness
22
Q
What enzyme is deficient in phenylketonuria (PKU)
A
Phenylalanine hydroxylase
23
Q
What are the symptoms of maple syrup urine disease (MSUD)
A
Sweet-smelling urine, lethargy, poor feeding, vomiting, and developmental delay
24
Q
What causes hyperammonemia in urea cycle disorders
A
Deficiencies in enzymes like ornithine transcarbamylase (OTC) or carbamoyl phosphate synthetase (CPS) lead to the accumulation of ammonia
25
What is the function of carbamoyl phosphate synthetase I (CPS I) in the urea cycle
CPS I catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, the first step in the urea cycle
26
What are the clinical features of ornithine transcarbamylase (OTC) deficiency
Hyperammonemia, orotic aciduria, lethargy, and cerebral edema
27
What is the role of lipoprotein lipase (LPL) in lipid metabolism
LPL hydrolyzes triglycerides in chylomicrons and VLDL into free fatty acids and glycerol, facilitating their uptake by tissues
28
What is the significance of ApoB-100 in lipoprotein metabolism
ApoB-100 is essential for the synthesis and clearance of VLDL, IDL, and LDL
29
What are the clinical features of familial hypercholesterolemia
Elevated LDL cholesterol, tendon xanthomas, and an increased risk of atherosclerosis
30
What is the impact of statins on cholesterol synthesis
Statins inhibit HMG-CoA reductase, reducing cholesterol synthesis and increasing LDL clearance from the bloodstream
31
What are the consequences of uncoupling protein (UCP) activity
UCPs dissipate the proton gradient in mitochondria, leading to heat generation instead of ATP production
32
What is the main source of energy during the fed state
Glucose is the main source of energy during the fed state
33
What are the key metabolic pathways activated during the fed state
Glycolysis, glycogenesis, and lipogenesis are activated during the fed state
34
What is the role of insulin in the fed state
Insulin promotes glucose uptake, glycogen synthesis, and fat storage, while inhibiting gluconeogenesis and glycogenolysis
35
How does the liver respond to insulin during the fed state
The liver increases glycogen synthesis and decreases glucose production through gluconeogenesis
36
What is the primary function of the pentose phosphate pathway
The pentose phosphate pathway generates NADPH and ribose-5-phosphate for nucleotide synthesis and reductive biosynthesis
37
What are the key enzymes of the pentose phosphate pathway
Glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase are key enzymes of the pentose phosphate pathway
38
What happens during the oxidative phase of the pentose phosphate pathway
NADPH is generated, which is essential for fatty acid synthesis and maintaining reduced glutathione levels
39
What is the role of NADPH in red blood cells
NADPH is crucial for maintaining reduced glutathione levels, which protect red blood cells from oxidative damage
40
What triggers the non-oxidative phase of the pentose phosphate pathway
The non-oxidative phase is triggered when the cell needs ribose-5-phosphate for nucleotide synthesis
41
What is the impact of a deficiency in glucose-6-phosphate dehydrogenase (G6PD)
G6PD deficiency leads to reduced NADPH production, making red blood cells more susceptible to oxidative stress and hemolysis
42
What is the role of fructose-2,6-bisphosphate in glycolysis
Fructose-2,6-bisphosphate activates phosphofructokinase-1 (PFK-1), enhancing glycolysis
43
How is fructose-2,6-bisphosphate regulated
Fructose-2,6-bisphosphate levels are regulated by insulin (which increases it) and glucagon (which decreases it)
44
What is the function of pyruvate dehydrogenase (PDH) in energy metabolism
PDH converts pyruvate to acetyl-CoA, linking glycolysis to the TCA cycle
45
What regulates pyruvate dehydrogenase activity
PDH is activated by ADP and inhibited by ATP, NADH, and acetyl-CoA
46
What is the role of the TCA cycle in cellular respiration
The TCA cycle generates NADH and FADH2, which are used in the electron transport chain to produce ATP
47
What are the key products of one turn of the TCA cycle
One turn of the TCA cycle produces 3 NADH, 1 FADH2, 1 GTP (or ATP), and 2 CO2 molecules
48
What is the importance of alpha-ketoglutarate in the TCA cycle
Alpha-ketoglutarate is a key intermediate that can be used for amino acid synthesis and energy production
49
What enzyme converts succinate to fumarate in the TCA cycle
Succinate dehydrogenase converts succinate to fumarate, and it is also part of Complex II in the electron transport chain
50
What is the role of citrate in metabolism
Citrate can be used in the TCA cycle, or transported to the cytoplasm for fatty acid and cholesterol synthesis
51
What is the significance of the malate-aspartate shuttle
The malate-aspartate shuttle transfers reducing equivalents (NADH) from the cytoplasm into the mitochondria for ATP production
52
What is the function of the electron transport chain (ETC)
The ETC transfers electrons from NADH and FADH2 to oxygen, driving the synthesis of ATP through oxidative phosphorylation
53
What is the role of Complex IV in the electron transport chain
Complex IV (cytochrome c oxidase) transfers electrons to oxygen, the final electron acceptor, forming water
Pumps protons
54
What happens during oxidative phosphorylation
During oxidative phosphorylation, the energy from electron transfer in the ETC is used to pump protons across the mitochondrial membrane, creating a gradient that drives ATP synthesis
55
What are the effects of ETC uncoupling on cellular metabolism
ETC uncoupling dissipates the proton gradient as heat, reducing ATP production and increasing thermogenesis
56
What is the function of ATP synthase in mitochondria
ATP synthase uses the proton gradient generated by the ETC to convert ADP and inorganic phosphate into ATP
57
What are the consequences of a deficiency in pyruvate dehydrogenase (PDH)
PDH deficiency leads to lactic acidosis, neurodevelopmental delay, and decreased energy production
58
What role does the enzyme hexokinase play in glycolysis
Hexokinase phosphorylates glucose to form glucose-6-phosphate, the first step in glycolysis
59
What is the function of phosphofructokinase-1 (PFK-1) in glycolysis
PFK-1 is the rate-limiting enzyme in glycolysis, converting fructose-6-phosphate to fructose-1,6-bisphosphate
60
What activates and inhibits phosphofructokinase-1 (PFK-1)
PFK-1 is activated by AMP and fructose-2,6-bisphosphate and inhibited by ATP and citrate
61
What is the role of pyruvate kinase in glycolysis
Pyruvate kinase catalyzes the final step in glycolysis, converting phosphoenolpyruvate (PEP) to pyruvate and generating ATP
62
What are the key regulatory enzymes of gluconeogenesis
Pyruvate carboxylase, PEPCK, fructose-1,6-bisphosphatase, and glucose-6-phosphatase are key enzymes in gluconeogenesis
63
What is the function of glucose-6-phosphatase in gluconeogenesis
Glucose-6-phosphatase converts glucose-6-phosphate to glucose, allowing it to be released into the bloodstream
64
What are the effects of insulin on gluconeogenesis
Insulin inhibits gluconeogenesis by decreasing the expression of key gluconeogenic enzymes
65
What role does glucagon play in gluconeogenesis
Glucagon promotes gluconeogenesis by increasing the expression of enzymes like PEPCK and glucose-6-phosphatase
66
What is the role of acetyl-CoA in fatty acid synthesis
Acetyl-CoA provides the two-carbon units for fatty acid synthesis, which occurs in the cytoplasm
67
What enzyme is responsible for the synthesis of malonyl-CoA
Acetyl-CoA carboxylase catalyzes the formation of malonyl-CoA from acetyl-CoA
68
What is the function of fatty acid synthase
Fatty acid synthase catalyzes the synthesis of palmitate (a 16-carbon saturated fatty acid) from acetyl-CoA and malonyl-CoA
69
What is the impact of insulin on fatty acid synthesis
Insulin promotes fatty acid synthesis by activating acetyl-CoA carboxylase and increasing the availability of glucose for lipogenesis
70
What happens to fatty acids during beta-oxidation
During beta-oxidation, fatty acids are broken down in the mitochondria to produce acetyl-CoA, NADH, and FADH2
71
What regulates the rate of beta-oxidation in the mitochondria
The rate of beta-oxidation is regulated by the availability of fatty acids and the activity of carnitine palmitoyltransferase I (CPT I)
72
What is the role of carnitine in fatty acid metabolism
Carnitine transports long-chain fatty acids into the mitochondria for beta-oxidation
73
What is the function of hormone-sensitive lipase (HSL)
HSL hydrolyzes stored triglycerides in adipose tissue into free fatty acids and glycerol, which are released into the bloodstream
74
What triggers the activation of hormone-sensitive lipase (HSL)
HSL is activated by epinephrine and glucagon during fasting or stress, leading to the mobilization of stored fats
75
What is the role of ketone bodies during fasting
Ketone bodies provide an alternative energy source, particularly for the brain, during prolonged fasting
76
What are the three main ketone bodies produced during ketogenesis
The three main ketone bodies are acetoacetate, beta-hydroxybutyrate, and acetone
77
What happens to ketone bodies during prolonged fasting
During prolonged fasting, ketone bodies accumulate and are used by the brain and other tissues for energy, sparing glucose
78
What is the impact of a deficiency in medium-chain acyl-CoA dehydrogenase (MCAD)
MCAD deficiency impairs fatty acid oxidation, leading to hypoglycemia and the accumulation of medium-chain fatty acids
79
What is the role of the urea cycle in nitrogen metabolism
The urea cycle converts toxic ammonia into urea, which is then excreted in the urine
80
What enzyme catalyzes the first step of the urea cycle
Carbamoyl phosphate synthetase I (CPS I) catalyzes the first step of the urea cycle, forming carbamoyl phosphate from ammonia and bicarbonate
81
What are the symptoms of a urea cycle disorder
Symptoms include hyperammonemia, lethargy, vomiting, seizures, and, if untreated, can lead to coma or death
82
What is the significance of N-acetylglutamate in the urea cycle
N-acetylglutamate is an allosteric activator of carbamoyl phosphate synthetase I (CPS I), the first enzyme in the urea cycle
83
What is the effect of a deficiency in ornithine transcarbamylase (OTC)
OTC deficiency leads to hyperammonemia and elevated orotic acid levels, causing neurological damage and developmental delays
84
What is the role of alanine in the transport of nitrogen
Alanine transports nitrogen from muscle tissue to the liver, where it is converted to urea for excretion
85
What happens to amino acids during prolonged fasting
During prolonged fasting, amino acids are released from muscle protein and used for gluconeogenesis and energy production
86
What is the function of glutamine in nitrogen metabolism
Glutamine carries ammonia from peripheral tissues to the liver or kidneys for excretion as urea or ammonium
87
What is the significance of the Cori cycle in metabolism
The Cori cycle allows lactate produced by anaerobic glycolysis in muscles to be converted back to glucose in the liver
88
What is the role of phenylalanine hydroxylase in amino acid metabolism
Phenylalanine hydroxylase converts phenylalanine to tyrosine, a precursor for neurotransmitters and melanin
89
What is the consequence of a deficiency in phenylalanine hydroxylase
A deficiency in phenylalanine hydroxylase leads to phenylketonuria (PKU), causing the accumulation of phenylalanine and resulting in intellectual disability if untreated
90
What are the key symptoms of phenylketonuria (PKU)
Symptoms of PKU include intellectual disability, musty body odor, fair skin, eczema, and seizures
91
What is the treatment for phenylketonuria (PKU)
Treatment for PKU involves a low-phenylalanine diet and supplementation with tyrosine
92
What enzyme is deficient in maple syrup urine disease
Maple syrup urine disease is caused by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex
93
What are the symptoms of maple syrup urine disease
Symptoms include sweet-smelling urine, poor feeding, vomiting, lethargy, and, in severe cases, neurological damage
94
What is the role of vitamin B6 in amino acid metabolism
Vitamin B6 (pyridoxine) acts as a cofactor for transaminases and other enzymes involved in amino acid metabolism
95
What enzyme deficiency causes homocystinuria
Homocystinuria is often caused by a deficiency in cystathionine beta-synthase
96
What are the clinical features of homocystinuria
Homocystinuria is characterized by marfanoid habitus, lens dislocation, thromboembolism, and intellectual disability
97
What is the difference between homocystinuria and Marfan syndrome
Homocystinuria features downward lens dislocation and increased risk of thrombosis, while Marfan syndrome features upward lens dislocation and aortic root dilation
98
What enzyme deficiency leads to alkaptonuria
Alkaptonuria is caused by a deficiency in homogentisate oxidase
99
What are the key symptoms of alkaptonuria
Symptoms of alkaptonuria include dark urine, ochronosis (bluish-black pigmentation of connective tissues), and arthritis
100
What is the role of branched-chain amino acids in metabolism
Branched-chain amino acids (valine, leucine, isoleucine) are important for protein synthesis and can be used as energy sources
101
What is the treatment approach for maple syrup urine disease
Treatment involves dietary restriction of branched-chain amino acids and supplementation with thiamine (vitamin B1)
102
What enzyme deficiency causes orotic aciduria
Orotic aciduria is caused by a deficiency in uridine monophosphate synthase (UMPS)
103
What distinguishes orotic aciduria from OTC deficiency
Orotic aciduria lacks hyperammonemia, while OTC deficiency is associated with elevated orotic acid and hyperammonemia
104
What are the treatment options for homocystinuria
Treatment includes a low-methionine diet, high-dose vitamin B6, and, if necessary, betaine to reduce homocysteine levels
105
What is the function of lipoprotein lipase (LPL)
Lipoprotein lipase hydrolyzes triglycerides in chylomicrons and VLDL into free fatty acids and glycerol, facilitating their uptake by tissues
106
What is the role of ApoB-100 in lipoprotein metabolism
ApoB-100 is necessary for the assembly and secretion of VLDL from the liver and is a ligand for the LDL receptor
107
What are the clinical features of familial hypercholesterolemia
Features include elevated LDL cholesterol, xanthomas (cholesterol deposits in tendons), and an increased risk of atherosclerosis and coronary artery disease
108
What is the impact of statins on cholesterol metabolism
Statins inhibit HMG-CoA reductase, reducing cholesterol synthesis and increasing the clearance of LDL from the bloodstream
109
What are the consequences of a deficiency in carnitine palmitoyltransferase I (CPT I)
CPT I deficiency impairs the transport of long-chain fatty acids into the mitochondria for beta-oxidation, leading to hypoglycemia and muscle weakness
110
What is the significance of ApoE in lipid metabolism
ApoE is crucial for the clearance of chylomicron remnants and VLDL remnants by the liver
111
What is the role of very low-density lipoprotein (VLDL) in lipid transport
VLDL transports triglycerides from the liver to peripheral tissues for energy use or storage
112
What happens to VLDL after triglyceride removal
VLDL is converted to intermediate-density lipoprotein (IDL) and eventually to low-density lipoprotein (LDL), which delivers cholesterol to tissues
113
What is the role of high-density lipoprotein (HDL) in cholesterol metabolism
HDL is involved in reverse cholesterol transport, carrying cholesterol from peripheral tissues back to the liver for excretion
114
What are the effects of cholesterol ester transfer protein (CETP) on HDL function
CETP transfers cholesterol esters from HDL to other lipoproteins, which can influence HDL's role in reverse cholesterol transport
115
What is the impact of a deficiency in lecithin-cholesterol acyltransferase (LCAT)
LCAT deficiency leads to low levels of esterified cholesterol in HDL and can cause corneal opacities, anemia, and kidney dysfunction
116
What is the primary role of chylomicrons in lipid metabolism
Chylomicrons transport dietary triglycerides and cholesterol from the intestines to tissues for energy use or storage
117
What is the effect of niacin on lipid profiles
Niacin reduces triglycerides and LDL cholesterol while increasing HDL cholesterol
118
What is the role of the liver in lipoprotein metabolism
The liver synthesizes VLDL, converts IDL to LDL, and clears chylomicron remnants and HDL cholesterol from the blood
119
What is the function of hormone-sensitive lipase (HSL)
HSL hydrolyzes stored triglycerides in adipose tissue into free fatty acids and glycerol, which are released into the bloodstream
120
What triggers the activation of hormone-sensitive lipase (HSL)
HSL is activated by epinephrine and glucagon during fasting or stress, leading to the mobilization of stored fats
121
What is the significance of ApoB-48 in lipid transport
ApoB-48 is essential for the assembly and secretion of chylomicrons from the intestines
122
What enzyme catalyzes the conversion of cholesterol to pregnenolone
Cholesterol side-chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first step in steroid hormone synthesis
123
What is the role of acetyl-CoA in cholesterol synthesis
Acetyl-CoA is the precursor for cholesterol synthesis, which occurs in the cytoplasm and endoplasmic reticulum of liver cells
124
What are the main regulatory steps in cholesterol synthesis
The conversion of HMG-CoA to mevalonate by HMG-CoA reductase is the rate-limiting step and key regulatory point in cholesterol synthesis
125
What are the clinical implications of a deficiency in ApoB-100
A deficiency in ApoB-100 can lead to familial hypobetalipoproteinemia, characterized by low levels of LDL cholesterol and fat malabsorption
126
What is the function of bile acids in lipid digestion
Bile acids emulsify dietary fats in the intestines, aiding in the digestion and absorption of lipids
127
What happens to bile acids after they aid in digestion
Bile acids are reabsorbed in the ileum and recycled back to the liver through enterohepatic circulation
128
What is the role of lipoprotein(a) in cardiovascular disease
Lipoprotein(a) is a variant of LDL associated with an increased risk of atherosclerosis and cardiovascular disease
129
What are the effects of omega-3 fatty acids on lipid metabolism
Omega-3 fatty acids reduce triglyceride levels, have anti-inflammatory effects, and may reduce the risk of cardiovascular disease
130
What is the function of peroxisome proliferator-activated receptors (PPARs) in lipid metabolism
PPARs regulate the expression of genes involved in fatty acid oxidation, lipid storage, and insulin sensitivity
131
What are the clinical features of metabolic syndrome
Metabolic syndrome is characterized by abdominal obesity, insulin resistance, dyslipidemia, hypertension, and an increased risk of cardiovascular disease
132
What is the impact of insulin resistance on lipid metabolism
Insulin resistance leads to increased lipolysis, elevated free fatty acids, and dyslipidemia, contributing to cardiovascular risk
133
What is the role of leptin in energy homeostasis
Leptin regulates appetite and energy expenditure by signaling the status of energy stores to the hypothalamus
134
What are the effects of leptin deficiency
Leptin deficiency leads to uncontrolled appetite, obesity, and insulin resistance
135
What is the significance of adiponectin in metabolism
Adiponectin enhances insulin sensitivity, promotes fatty acid oxidation, and has anti-inflammatory effects
136
What are the consequences of low adiponectin levels
Low adiponectin levels are associated with insulin resistance, type 2 diabetes, and increased cardiovascular risk
137
What is the role of AMP-activated protein kinase (AMPK) in metabolism
AMPK promotes energy-producing pathways like glucose uptake and fatty acid oxidation, while inhibiting energy-consuming processes like lipogenesis
138
What triggers the activation of AMPK
AMPK is activated by an increase in the AMP/ATP ratio, indicating low energy status in the cell
139
What is the role of SREBP in cholesterol and fatty acid synthesis
Sterol regulatory element-binding proteins (SREBPs) enhance the transcription of genes involved in cholesterol and fatty acid synthesis
140
What is the function of choline in lipid metabolism
Choline is required for the synthesis of phosphatidylcholine, a major component of cell membranes and lipoproteins
141
What are the consequences of choline deficiency
Choline deficiency can lead to liver damage, muscle dysfunction, and non-alcoholic fatty liver disease (NAFLD)
142
What enzyme deficiency causes Niemann-Pick disease
Niemann-Pick disease is caused by a deficiency in sphingomyelinase, leading to the accumulation of sphingomyelin in cells
143
What are the key features of Gaucher disease
Gaucher disease is characterized by hepatosplenomegaly, bone pain, anemia, and the accumulation of glucocerebrosides in macrophages
144
What is the treatment approach for Gaucher disease
Treatment includes enzyme replacement therapy with recombinant glucocerebrosidase and, in some cases, substrate reduction therapy
145
What enzyme deficiency leads to Tay-Sachs disease
Tay-Sachs disease is caused by a deficiency in hexosaminidase A, leading to the accumulation of GM2 gangliosides in neurons
146
What are the clinical manifestations of Tay-Sachs disease
Symptoms include progressive neurodegeneration, cherry-red spots on the macula, and loss of motor skills
147
What is the role of ceramide in sphingolipid metabolism
Ceramide is a central molecule in sphingolipid metabolism, serving as a precursor for sphingomyelin and glycosphingolipids
148
What are the consequences of a deficiency in arylsulfatase A
A deficiency in arylsulfatase A leads to metachromatic leukodystrophy, characterized by the accumulation of sulfatides and progressive demyelination
149
What is the function of lysosomal acid lipase
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides within lysosomes, playing a crucial role in cholesterol metabolism
150
What enzyme deficiency causes Krabbe disease
Krabbe disease is caused by a deficiency in galactocerebrosidase, leading to the accumulation of galactocerebrosides and psychosine in the nervous system
151
What are the key features of Krabbe disease
Symptoms include developmental delay, optic atrophy, peripheral neuropathy, and early death
152
What is the impact of a deficiency in alpha-galactosidase A
A deficiency in alpha-galactosidase A causes Fabry disease, characterized by angiokeratomas, kidney failure, and neuropathic pain
153
What is the role of glucocerebrosidase in lipid metabolism
Glucocerebrosidase breaks down glucocerebrosides into glucose and ceramide, preventing their accumulation in cells
154
What is the clinical significance of lysosomal storage diseases
Lysosomal storage diseases result from deficiencies in enzymes required for the degradation of specific biomolecules, leading to their accumulation and causing cellular dysfunction and disease
