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Biochemistry > Disorders of Lipid Metabolism > Flashcards

Disorders of Lipid Metabolism Flashcards

1
Q

Presentations of primary carnitine deficiency

A
  1. Hypoketotic hypoglycemia
  2. Hepatomegaly
  3. Encephalopathy
  4. Elevated transaminases
  5. Hyperammonemia
  6. Cardiomyopathy
  7. Pericardial effusion
  8. Muscle weakness
  9. Recurrent vomiting, diarrhoea
  10. Recurrent infections
  11. Hypochromic anaemia
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2
Q

Presentations of secondary carnitine deficiency

A
  1. Hypoketotic hypoglycemia in infancy
  2. Cardiac, skeletal muscle diseases
  3. Seizures
  4. Apnea
  5. Developmental delay
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3
Q

Causes of secondary carnitine deficiency

A
  1. Organic acidurias
  2. Respiratory chain, mitochondrial defects
  3. Renal Fanconi syndrome
  4. Drug induces - valproic acid
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4
Q

Methyl malonic aciduria

A

Methyl malonyl CoA mutase

  1. Ketoacidosis
  2. Hypotonia
  3. Hypoglycemia
  4. Hyperammonemia
  5. Hyperuricemia
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5
Q

Propionic aciduria

A

Propionyl CoA carboxylase

  1. Ketoacidosis
  2. Hypotonia
  3. Vomiting
  4. Lethargy
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6
Q

Medium chain acyl CoA dehydrogenase deficiency

A

Medium chain acyl CoA dehydrogenase

  1. Acidosis
  2. Hyperammonemia
  3. Hyperglycemia
  4. Fatty liver
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7
Q

Long chain acyl CoA dehydrogenase deficiency

A

Long chain acyl CoA dehydrogenase

  1. Non ketotic hypoglycemia
  2. Low carnitine
  3. High acyl carnitine
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8
Q

Glutaric aciduria

A

Glutaryl CoA dehydrogenase

  1. Ketoacidosis
  2. Convulsions
  3. Progressive neurological defects
  4. Cerebral palsy
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9
Q

Common characteristics of organic acidurias

A
  1. Accumulation of organic acids in body
  2. Acidosis
  3. Vomiting
  4. Convulsions
  5. Coma
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10
Q

Refsums disease

A 
Phytanic acid hydroxylase or alpha hydroxylase
Accumulation of phytanic acid
1. Polyneuropathy
2. Retinitis pigmentosa
3. Nerve deafness
4. Cerebellar ataxia
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11
Q

Ketosis

A
  • blood level of ketone bodies normally <1mg/dl
  • accumulates when rate of synthesis exceeds ability of extrahepatic tissues to use them
  • ketonemia
  • ketouria
  • acetone breath
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12
Q

C/F of ketosis

A
  1. Metabolic acidosis
  2. Reduced buffers
  3. Kussmaul’s breath
  4. Acetone breath
  5. Osmotic diuresis due to ketonuria
  6. Sodium loss
  7. Dehydration
  8. Coma
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13
Q

Diagnosis of ketosis

A

Detection of ketone bodies in urine - Rothera’s test

Purple ring is seen

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14
Q

Management of ketoacidosis

A
  1. Insulin, glucose given intravenously

2. Maintenance of electrolyte and fluid balance

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15
Q

A teenage girl was brought to the hospital with complaints that she gets too tired and has muscle pains. A consulting neurologist found muscle weakness in arms and legs.
Biochemical investigations revealed elevated amounts of triglycerides esterified with primary long chain fatty acids.
Muscle biopsy report showed significant number of lipid vacuoles.

A

Carnitine deficiency

  1. Muscle weakness
  2. Myopathy
  3. Hypoglycemia
  4. Cardiomyopathy
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16
Q

Adrenoleukodystrophy

A

Deficient oxidation of VLCFA by peroxisomes

  • X linked
  • VLCFA accumulate in myelin sheaths and destroy them
  • child dies during first decade of life
17
Q

Zellweger syndrome

A
  • proteins/enzymes not transported into peroxisomes
  • formation of empty/ghost peroxisomes
  • PUFA levels elevated
18
Q

Lipid storage diseases

A
  • lysosomal storage diseases
  • failure of breakdown of sphingolipid due to enzyme deficiency
  • can be detected by amniocentesis
  • only 1 type of sphingolipid accumulates
  • synthesis rate is not affected
  • extent of enzyme def. is same in all tissues
    1. Severe mental retardation
19
Q

Gauchers disease

A 
Beta glucosidase def.
Glucocerebroside accuumulates
1. Hepatosplenomegaly
2. Bone erosion
3. Anaemia
20
Q

Niemann Picks

A 
Sphingomyelinase def.
Sphingomyelin
1. Severe MR
2. CNS damage
3. Hepatosplenomegaly
4. Cherry red spot in macula
21
Q

Krabbes leukodystrophy

A 
Beta galactosidase def.
Galactocerebroside
1. Severe MR
2. Total absence of myelin in CNS
3. Globoid bodies in white matter
22
Q

Metachromatic leukodystrophy

A 
Sulfatidesulfatase def.
Sulphogalactocerebroside
1. Neurological deficit
2. Speech difficulty
3. Optic atrophy
23
Q

Fabry;s disease

A

Alpha galactosidase def.
Ceramide trihexoside
1. Renal failure
2. Purplish papules seen

24
Q

Tay Sachs

A 
Hexosaminidase def.
Ganglioside
1. MR
2. Cherry red spot in macula
3. Progressive deterioration
25
Q

Multiple sclerosis

A
  • demyelinating disease
  • phospholipids are lost from white matter of CNS
  • CSF contains excess phospholipids
26
Q

A 63-year-old female presents to the clinic with recurrent midepigastric pain over the last 3 months. She reports some relief
shortly after eating, but then the discomfort returns. She has
tried various over-the-counter medications without relief. She
also reports feeling tired and has had to increase the amount of
ibuprofen needed for relief of her arthritis. She denies nausea

A

Gastric ulcer due to NSAIDs

- NSAID inhibit gastric enzymes needed for PG synthesis which protect gastric mucosa

Biochemistry (18 decks)

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