Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

302: Scientific basis of medicine > Inherited conditions > Flashcards

Inherited conditions Flashcards

1
Q

Incidence of inherited metabolic disorder

A

1:1500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Clinical symptoms of inherited metabolic disorder

A

Poor feeding, vomiting

Lethargy

Seizures

Coma

Not responsive to glucose and calcium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Cystinuria

  • Inheritance
  • Definition
  • Presentation
A

Autosomal recessive
- Mutation prevents reabsorption of basic/ positively charged amino acids.

Aminoaciduria

  • Cysteine is not reabsorb in kidney properly= Excess cysteine into the urine which forms stones
  • Deficiency in transport and metabolism of amino acids.

Stone locations:

  • Kidney
  • Ureter
  • Bladder
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Phenylketonuria

  • Pathophysiology
  • Genetics
A

Decreased metabolism of amino acid phenylalanine
- Phe accumulates in the blood and is toxic to the brain

  • Defective phenylalanine hydroxylase= cannot break down into tyrosine.
  • Tyrosine essential for catecholamine, melanins production.

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Phenylketonuria

- Signs and symptoms

A

Seizures, Tremors

Intellectual disability/ Low iQ

Microencephaly

Behavioural problems

Blonde hair, light skin (tyrosine needed for melanin production)

Musty odour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Urea cycle defects

  • Defintion
  • Signs and symptoms
A

Defects in urea cycle metabolites

  • Glutamine
  • Glutamic acid
  • Aspartic acid
  • Glycine

Signs and symptoms

  • Occurs soon after birth
  • Lethargy
  • Poor feeding
  • Seizures
  • Coma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Glycogen storage disease type 1 (GSD)

  • Definition
  • Pathophysiology
  • Signs and symptoms
A

Glucose-6-phosphatase deficiency

  • Enzyme is required to hydrolysis G6P, to release glucose.
  • lack of this enzyme causes glycogen to accumulate in glycogenolysis

Signs

  • Hypoglycaemia
  • Lactic acidosis (due to relying on anaerobic glycolysis)
  • Lipidaemia
  • Hepatomegaly
  • Uricaemia
  • Neutropenia
  • Bruising
  • Renal disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Management of Glycogen storage disease type 1 (GSD)

A

Continuous feeds or corn starch

Limit other sugars- fructose, galactose, sucrose, maltose.
- This prevents more glycogen accumulation

Allopurinol
- Inhibits uric acid

Statins
- High cholesterol

Liver transplants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Galactosemia

  • Definition
  • Pathophysiology + genetica
  • Signs and symptoms
  • Treatment
A

Galactose 1 phosphate uridyl transferase (GAL1PUT) deficiency

  • Causs build up of galactosemia
  • Autosomal recessive

Galactose cannot be metabolise so builds up in tissue:

  • Liver: hepaptomegaly, cirrhosis, jaundice
  • Eyes: cataracts
  • Brain: brain damage, seizures
  • Hypoglycaemia: weight loss, vomitting

Treatment
- Galactose free diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

MCAD deficiency

  • Definition
  • Presentation
A

Medium-chain acyl-CoA dehydrogenase deficiency

  • Fatty acid oxidation disorder
  • Unable to breakdown medium chain fatty acid into acetyl-CoA

Presentation

  • Hypoglycaemia when fasting/ ill (cannot form ketones from fatty acids)
  • Reduced carnitine/ acyl ratio
  • Elevation of medium-chain acylcarnitine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

MCAD deficiency

- Management

A

Avoid fasting

Feed slow release carbs like starch to release glucose overnight.

Supplements

  • carnitine
  • Riboflavin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mucopolysaccharidosis

- Definition

A

Inherited metabolic diseases caused by the absence/ malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans
- Causes GAGs to build up in cells, blood and connective tissues

Symptoms/signs

  • Characteristic facial feature
  • Mental retardation
  • contractures
  • Dysostosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Cystinuria

- Management

A

Treating symptoms:

  1. Prevention of stones
    - Good hydration
    - Alkalisation of urine (citrate supplement, acetazolamide).
  2. Chelation (removing cysteine)
    - Using penicillamine
  3. Surgery–> Lithotripsy
    - Destroys stones
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Phenylketonuria

- Management

A

Diet
- Low in phenylalanine
(soybeans, egg whites, shrimp, chicken breast, spirulina, watercress, fish, nuts, crayfish, lobster, tuna, turkey, legumes)
-

Replacement of cathecolamines/ Supplements

  • L-DOPA
  • 5-HT
  • BH4 (co-enzyme for PAH that can be deficient)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Urea cycle defects

- Pathophysiology

A

Deficiency in enzymes that break down the metabolites of amino acid precursors

  • Glutamine
  • Glutamic acid
  • Aspartic acid
  • Gylcine

Causes ammonia accumulation= toxic to brain

Presents

  • Hyperammoniaemia
  • Alkalosis
  • Normal LFT
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Congenital hyperammonaemia type 1

  • Defect
  • Pathophysiology
  • Genetics
A

Urea cycle defect
- Defect in carbamyl phosphate synthase

Prevens ammonia from being metabolised from glutamate= hyperammonaemia

Autosomal recessive

17
Q

Congenital hyperammonaemia type 2

  • Enzyme defect
  • Pathophysiology
  • Genetics
A

X-linked
- Most common type of urea cycle defect

Defective ornithine transcarbomylase

  • Processes ornithine into cirtuline.
  • Causes build up of ammonia
18
Q

Citrulinaemia

  • Genetics
  • Mechanism
  • Presentation
A

Autosomal recessive

Mutation of argininosuccinate synthase

  • Forms argino-succinic acid from citrulline and aspartate
  • Build up of ammonia

Presentation
- Brittle hair

19
Q

Urea acid defects management

A

Dietary
- Reduced protein intake

Removal of toxic products
- Levulose (ammonia)

Removal of excess precursors

  • Na Benzoate (glycine)
  • Na phenylbutyrate (glutamate)

Replace urea synthesis intermediates
- Citrulline, arginine

Liver transplant

20
Q

glycosaminoglycans

A

Long sugar chains in cells that help build tissues

  • Bone
  • Cartilage
  • Skin
  • Connective tissue
21
Q

Hurler syndrome

  • Definition
  • Pathology
  • Symptoms and signs
A

Mucopolysaccharidosis type I-

  • Alpha-I-iduronidase deficiency= lysosomal storage disease
  • Autosomal recessive

Signs and symptoms

  • May be normal at birth
  • Corsening of facial features
  • large head, pominent frontal bones
  • splenomegaly, hepatomegaly
22
Q

Gargoyle cells

A

Cells swollen with excess lysosomes due to Hurler syndrome

  • lack of alpha-1-duronidase enzyme
  • Cannot breakdown GAGs
23
Q

Examples of mucopolysaccharidosis

A

Hurler syndrome

Hunter’s disease

Sanfilippo

24
Q

Mitochondrial disorders

  • Inheritance
  • Examples
A

Respiratory chain defects due to mutations in mitochondrial enzymes/ proteins
- Inherited from maternal mitochondria DNA

Examples

  • Leighs’s disease
  • Leber’s hereditary optic neurpoathy
  • MELAS syndrome

Signs and symptoms

  • Poor growth
  • Muscle weakness
  • Organ system disease
  • Dementia
25
Q

Peroxisomal disorders

A

Disorder of peroxisomes, required to oxidise many substrates.

Examples

  • Zellweger’s
  • Refusum
  • Adrenoleucodystrophy

Causes accumulation of very long chain fatty acids in adrenal glands and peripheral nevers

Treatment

  • Diet
  • BM transplant

302: Scientific basis of medicine (28 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions