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MCM-1 > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

What are the symptoms commonly seen with GSD1?

A

muscle cramps, myoglobinuria, pain with exercise. trunk and extremity weakness

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2
Q

What is the difference between GSD1a and GSD1b?

A
  1. (1a): G6phosphatase deficient

2. (1b): G6P transclocase deficiency

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3
Q

What unique feature would indicate GSD1b rather than GSD1a?

A

neutropenia is present in GSD1b

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4
Q

What is the inheritance of galactosemia?

A

autosomal recessive

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5
Q

What is defective in galactosemia?

A
  1. galactokinase
  2. GALT; galactose-1-phosphate uridyl transferase
  3. UDP galactose epimerase
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6
Q

How would galactosemia normally present?

A
  1. vomiting after lactose feeding.
  2. jaundice/hepatomegaly.
  3. apraxic speech, tremor, ataxia, developmental delay
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7
Q

What is the inheritance of hereditary fructose intolerance?

A

autosomal recessive

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8
Q

What happens in hereditary fructose intolerance?

A
  1. F1P accumulate in tissue.

2. failure to thrive, vomiting, jaundice, proteinuria, Renal Fanconi syndrome

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9
Q

Energy metabolism disease have a few different enzymes that can “go bad”. What one defect will result in maintaining a normal lactate:pyruvate ratio?

A

pyruvate dehydrogenase deficiency.

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10
Q

Energy metabolism disease have a few different enzymes that can “go bad”. What one defect will result in elevated lactate:pyruvate ratio?

A
  1. fumarase deficiency
  2. 2-ketoglutarate dehydrogenase
  3. succinyl-CoA ligase
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11
Q

What treatments are being used for the energy metabolism disorders, like pyruvate dehydrogenase deficiency?

A
  1. thiamine supplement
  2. riboflavin supplement
  3. CoQ supplement
  4. dicloroacetic acid has some benefit.
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12
Q

Acidopathy

A

abnormal amino acid metabolism

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13
Q

Acidemia

A

amino acid accumulation in blood

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14
Q

Aciduria

A

amino acid accumulation in urine

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15
Q

What is inhereitance of phenylketonuria?

A

autosomal recessive, rare also

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16
Q

What is the cause of phenylketonuria?

A
  1. loss of function of Phe hydroxylase.

leading to accumulation of Phenyllactate, Phenylacetate, which cause musty smell on breath

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17
Q

What are associated risks that PKU pt are more likely to get?

A
  1. albinism, blue eyes, white/blonde hair

2. neurodegenerative disease/damage

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18
Q

Why is PKU a bad disease to have, and how does it contribute to albinism?

A
  1. Phe is converted to Tyr, which is then converted to melanin, epinephrine and other components that are useful for cell survival and phenotypic appearances.
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19
Q

What methods can be used to detect PKU?

A
  1. amniocentesis at 15-18wk
  2. mass spec: analyze presence of Phenyl derivatives
  3. Guthrie test: blood smear analysis for Phe presence at birth.
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20
Q

What can be used to help treat PKU?

A
  1. avoid Phe and Aspartame

2. increase fish oil and iron or carnitine.

21
Q

What is maple syrup urine disease (MSUD)?

A
  1. autosomal recessive mutation to branched chain alpha- ketoacid dehydrogenase enzyme.
  2. present with MS urine color and odor, feeding problems, psychomotor retardation.
22
Q

What is classical presentation of MSUD?

maple syrup urine disease

A

anorexia, vomiting, dehydration, lethargy, hypotonia, seizures, hypoglycemia, ketoacidosis, pancreatitis, rapid neurological decline, coma and cerebral edema.

23
Q

What amino acids must be avoided with MSUD?

maple syrup urine disease

A

valine, leucine, isoleucine.

leucine accumulation suggests cognitive distress

24
Q

What is MCADD?

A
  1. Medium chain acyl-CoA dehydrogenase deficiency.
  2. autosomal recessive
  3. prevents ability to activate and breakdown medium chain (6-12) FA via beta-oxidation
25
Q

What are the signs/symptoms of MCADD?

medium chain Acyl-CoA dehydrogenase deficiency

A
  1. Hypoketotic hypoglycemia.
  2. lethargy, encephalopathy, hepatomegaly.
  3. also potential for extended period of emesis prior to hypoglycemia.

low blood glucose (fasting) and no ketone body production bc of no Acetyl-CoA production from beta-oxidation

26
Q

What can be done to try and treat the MCADD?

medium chain Acyl-CoA dehydrogenase deficiency

A
  1. increase carnitine supplement.
27
Q

What are a few examples of mitochondrial diseases?

A
  1. mt myopathy.
  2. DM and Deafness (DAD)
  3. Leber’s hereditary optic neuropathy (LHON)
  4. Leigh syndrome
  5. neuropathy, ataxia, retinitis pigmentosa, ptosis (NARP)
  6. myoneurogenic gastrointestinal encephalopathy (MNGIE)
  7. myoclonic epilepsy with ragged red fibers (MERRF)
  8. MELAS
28
Q

In general mitochondrial diseases typically affect what concerning the body?

A
  1. muscle tone
  2. renal system
  3. hepatocytes
  4. elevate lactic acid
29
Q

What is Lesch-Nyhan syndrome?

A
  1. X-linked recessive mutation of HGPRT deficiency.

2. causes hyperuricemia, hyperuricosuria, and gout.

30
Q

What symptoms will present with Lesch-Nyhan syndrome?

A
  1. poor muscle control
  2. mental retardation
  3. self-mutilation
  4. pain in joints from uric acid deposits.
31
Q

What is a peroxisomal disorder?

A
  1. autosomal recessive brain disorder that results in skeletal and cranial facial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.
32
Q

What is Zellweger syndrome?

A
  1. peroxisomal disorder which prevents assembly of peroxisomes. this leads to inability to breakdown VLCFA and branched chain fatty acids, causing accumulation and impair multiple organ systems.
33
Q

What is the presentation of people affected by peroxisomal disorders?

A
  1. hypomyelination, and reduced brain development
  2. hypotonia, hepatomegaly, renal cysts and facial abnormalities.
  3. infants can present with seizures also.
34
Q

What is adrenoleukodystrophy?

A
  1. X-linked recessive peroxisomal disorder. with inability to form peroxisomes in order to break down Fatty acid chains.
35
Q

What are some initial symptoms that would be found in adrenoleukodystrophy?

A
  1. emotional instability, hyperactivity and disruptive behavior
36
Q

What are symptoms present in adults that would indicate a pt should be screened for adrenoleukodystrophy?

A
  1. muscle stiffness, paraparesis and sexual dysfunction
37
Q

Why would it be very important to detect the presence of adrenoleukodystrophy? What happens if it were to go untreated?

A
  1. if it were to locate and affect the cerebrum, demyelination would take place and contribute to vegetative state followed by death.
38
Q

What is an effective method to treating cerebral adrenoleukodystrophy?

A
  1. stem cell transplant to maintain myelination.

2. restriction of LCFA and branched chain fatty acids.

39
Q

What is Gaucher’s disease?

A
  1. autosomal recessive accumulation of glucocerebroside and glucosylceramide in the spleen, liver, kidney, lungs, brain and bone marrow
40
Q

Describe features of Gaucher’s type 1 disease.

A
  1. non-neuronopathic with slow progression of visceral disease.
  2. hepatosplenomegaly
  3. anemia, thrombocytopenia, and leukopenia.
  4. bone structure affected proximal to distal.
41
Q

Describe features of Gaucher’s type 2 disease.

A
  1. hepatosplenomegaly
  2. spasticity, seizure, poor suck/swallow reflex.
  3. CNS impaired.
  4. death by age 2y/o
42
Q

Describe features of Gaucher’s type 3 disease.

A
  1. slow, mild neurological dysfunction
  2. hepatosplenomegaly, seizure, skeletal irregularities.
  3. death normally by mid to late teens.
43
Q

Beta-glucosidase was shown to have a positive effect on treating what?

A
  1. the visceral deterioration associated with Gaucher’s disease.
44
Q

What is Niemann-Pick Disease?

A
  1. autosomal recessive loss of sphingomyelinase. leading to sphingomyelin accumulation in lysosomes.
45
Q

What is type A niemann-pick disease?

A
  1. classic infantile with progressive CNS deterioration.
46
Q

What is type B Niemann-Pick disease?

A
  1. adult onset, that affects the liver. causing cirrhosis and hepatocyte replaced with foam cells.
47
Q

What are some presenting symptoms that could be found in either type A or B niemann-pick syndrome?

A
  1. ataxia, dysarthria, dysphagia, dystonia, seizures, dementia.
48
Q

What is citrullinemia?

A

autosomal recessive urea cycle disorder that leads to accumulation of urea and other toxins to accumulate in blood.
found in urine

49
Q

Just for fun, what are 10 differential diagnosis for neonatal hyperammonemia?

A
  1. organic acidemia
  2. homocitrullinemia
  3. FA oxidation defect
  4. Lysinuric protein intolerance
  5. pyruvate metabolism defect
  6. transient hyperammonemia
  7. hyperornithinemia
  8. dehydration
  9. hyperammonemia
  10. liver failure

MCM-1 (8 decks)

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