Brainscape's Knowledge GenomeTM

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


See full index

Pediatrics > Genetic Disorders/Inborn Errors Of Metabolism 2 > Flashcards

Genetic Disorders/Inborn Errors Of Metabolism 2 Flashcards

0
Q

Disorders with unusual odors:

  1. Mousy/musty
  2. Sweet
  3. Sweaty feet
  4. Rotten cabbage
A
  1. Phenylketonuria
  2. Maple syrup urine disease
  3. Isovaleric or glutaric
  4. Hereditary tyrosinemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

Typical presentations of inborn errors of metabolism?

A
  1. Acute severe neonatal illness (apparently healthy newborn develops severe illness within the first few hours/weeks)
  2. Recurrent intermittent episodes at times of stress (surgery, fasting, illness)
  3. Chronic and progressive symptoms (mitochondrial)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Increased plasma NH3 suggest?

A
  1. Hypoxia
  2. Severe dehydration
  3. Urea cycle defects if > 200
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Family history suspicious for inborn errors of metabolism?

A
  1. Neonatal deaths in siblings or males on maternal side
  2. Parental consanguinity
  3. Mental retardation
  4. Unusual dietary preferences and relatives
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Ketones in newborns versus older?

A

Inborn errors of metabolism versus fatty acid oxidation defect

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

Test suggestive for galactosemia?

A

Non-glucose-reducing substance on urine dipstick

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

Baby with metabolic acidosis – order these tests?

A
  1. Serum lactate and pyruvate (rule out lactic acidemias or organic acidemias)
  2. Plasma amino acids (rule out aminoacidemias or organic acidemias)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Baby with increased ammonia – test? Tx for hyperammonemia?

A
  1. Plasma amino acids (if high suspect aminoacidemia)
  2. Urine organic acids (elevated orotic acid suggests ornithine transcarbamylase deficiency)
  3. Sodium benzoate and sodium phenylacetate to increase excretion
  4. Oral Neosporin and lactulose to prevent bacterial production of ammonia in colon
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Homocystinuria – caused by? Inheritance? Clinical features? Diagnosis? Management?

A

Cystathionine synthase deficiency; autosomal recessive

  1. Marfanoid body habitus without arachnodactyly
  2. Downward lens subluxation (in Marfan’s, get upward lens subluxation)
  3. Hypercoagulable state
  4. Cardiovascular abnormalities – mitral or aortic regurgitation (unlike Marfan’s, no aortic dilatation)
  5. Scoliosis and large joints
  6. Developmental delay, mild mental retardation
  7. Increased methionine in urine and plasma
  8. Positive urinary cyanide nitroprusside test
  9. Methionine restricted diet
  10. Aspirin
  11. Folic acid/B6 supplementation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

PKU – inheritance? Clinical features? Diagnosis? Management? Prognosis?

A

On some obsessive

  1. Mental retardation/ADHD
  2. Mousy/musty odor
  3. Infantile hypotonia
  4. Eczema
  5. White hair and eyes (decreased pigment)

Phenylalanine: tyrosine ratio

Phenylalanine restricted diet

Near normal intelligence if diet restriction begins before one month

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

Maple syrup urine disease – inheritance? Clinical features? Diagnosis? Management? Prognosis

A

Autosomal excessive

  1. Progressive vomiting and poor feeding
  2. Lethargy and hypertonia
  3. Developmental delay
  4. Maple syrup odor in urine
  5. Hypoglycemia and acidosis during episodes

Sarah and urine BCAAs

Dietary protein restriction

Avert neurologic damage if protein restriction within two weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Tyrosinemia – inheritance? Clinical features? Diagnosis? Management? Prognosis

A

Autosomal recessive

  1. Prefold neuropathy
  2. Chronic liver disease
  3. Renal tubular dysfunction
  4. Rotten cabbage/fish odor

Succinylacetone in urine

  1. Dietary restriction of phenylalanine, tyrosine, NTBC
  2. Liver transplant
  3. Death in one-year if disease begins in infancy
  4. HCC and cirrhosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Transient tyrosinemia of the newborn - Clinical features? Diagnosis? Management? Prognosis?

A

Poor feeding or lethargy

Elevated serum tyrosine and allowing

  1. Decreased protein intake during acute episode
  2. Vitamin C may help aluminate tyrosine

Resolution within one month

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Membrane transport defects? Clinical features?

A
  1. Cystinuria – defect in the renal absorption of cystine, lysine, arginine, ornithine that leads to renal stones. (UTIs, dysuria, back pain, urinary urgency)
  2. Hartnup Disease – defect in transport of neutral amino acids (ataxia, photosensitivity rash, mental retardation emotional lability)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Transient hyperammonemia of the newborn – Presents when? Symptoms? Treatment?

A

Presents within 24-48 hours of life

Respiratory distress, alkalosis, vomiting, Lethargy

Aggressive anti- ammonia treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Most common urea cycle defect? Inheritance? Clinical features? Diagnosis? Management? Prognosis?

A

Ornithine transcarbamylase deficiency; X-linked recessive

Vomiting, lethargy, coma

  1. Elevated urine orotic acid, decreased serum situate, increased Ornstein
  2. Liver biopsy

Low-protein diet and management of hyperammonemia; liver transplant

Prognosis depends on neurologic sequelae

16
Q

Galactosemia – suspect when? Mech? Clinical features? Management? Prognosis?

A

Any newborn with hepatomegaly and hypoglycemia

Galactose-1-phosphate uridyltransferase deficiency

  1. Vomiting/diarrhea and FTT
  2. Hepatic dysfunction with hepatomegaly
  3. Cataracts with oil-droplets appearance
  4. Renal tubular acidosis
  5. Non-glucose-reducing substrate in urine
  6. Enzyme deficiency and blood cells

Galactose-free diet

Normal intelligence is treated early, otherwise mental retardation, ovarian failure

17
Q

Von Gierke’s disease – inheritance? Defect? Presenting features? Management? Future risk for?

A

Autosomal recessive; glucose-6-phosphatase deficiency

  1. Organomegaly
  2. metabolic acidosis
  3. Hypoglycemia
  4. hypertriglyceridemia
  5. Doll-like facies
    Highcomplex carbohydrate diet

HCC

18
Q

Pompeys disease – aka? deficiency? Features?

A

Acid maltase deficiency

Alpha-glucosidase deficiency

  1. Muscular weakness (floppy baby) and cardiomegaly
  2. Metabolic acidosis and hepatomegaly
19
Q

Sequela of fatty acid oxidation disorders? Most common fatty acid oxidation disorder? Diagnose by? Management?

A
  1. Nonketotic hypoglycemia
  2. Hyperammonia
  3. Myopathy and cardiomyopathy

Medium chain acyl-CoA dehydrogenase deficiency

Tandem mass spectrometry detecting elevated plasma medium chain fatty acids

Frequent feedings with high carb, low-fat diet and carnitine supplementation

20
Q

Suspect if a disease involves three or more organ systems? Examples?

A

Mitochondrial disorders

Kearns-Sayre
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes)

21
Q

Tay-Sachs - deficiency of? Clinical features? Diagnosis? Prognosis?

A

Hexosaminodase A deficiency

  1. Cataracts
  2. Hypotonia and motor weakness
  3. Increased startle due to hyperacusis
  4. Macrocephaly
  5. Cherry red macula (NOT present in juvenile/adult onset)
  6. Progressive blindness, seizures, mental retardation

Hexosaminidase a activity in leukocytes/fibroblasts

Infantile disease is untreatable and death occurs by four; adult/juvenile type results in chronic debilitated state

22
Q

Most common gangliosidosis? Characteristic findings? Tx? Prognosis?

A

Gaucher’s disease

Erlenmeyer flask-shape to distal femur

Enzyme replacement therapy

Death By four years

23
Q

Neumann-Pick disease – deficiency in? clinical features? Prognosis?

A

Sphingomyelinase

neurodegeneration, ataxia, seizures, hepatosplenomegaly, cherry red macula

Death by four years

24
Q

Metachromatic leukodystrophy – deficiency? Present features Prognosis?

A

Arylsulfatase A deficiency

Araxua, seizures, progressive mental retardation

Death before 20

25
Q

Dysistosis multiplex? Seen in?

A

Constellation of bony abnormalities thickened cranium, J-shaped sella turcica, beak-like vertebrae, short clavicles, oar-shaped ribs)

Seen in mucopolysaccharidosis (lysosomal storage disorders with glucosaminoglycan accumulation)

26
Q

Most severe mucopolysaccharidosis? Inheritance? Deficiency? Clinical features? Diagnosis? Management? Prognosis?

A

Hurler syndrome; autosomal recessive; alpha-L-idoronidase deficiency

  1. Hepatosplenomegaly, kyphosis
  2. Course facial features
  3. Corneal clouding
  4. Developmental delay

Dermatan and heparan sulfate in urine and decreased a-L-idoronidase activity

Early bone marrow transplant to prevent neurodegeneration

Death by 15

27
Q

Hunter syndrome – inheritance? Clinical features? Diagnosis? Prognosis?

A

X linked recessive

  1. Hepatomegaly
  2. Hearing loss
  3. Dysostosis multiplex
  4. No corneal clouding (unlike hurler)

Dermatan and heparan sulfate in urine and decreased a-L-iduronidase

No treatment, death by 20

28
Q

Sanfilippo syndrome – inheritance? Features?

A

Autosomal recessive; mental and motor retardation

29
Q

Marquino syndrome – clinical findings? Prognosis?

A

Unlike other mucopolysaccharidosis, no mental retardation

Scoliosis meeting to cor pulmonale results in death by 40

30
Q

Hepatolenticular degeneration – defect? Clinical features? Diagnosis? Management

A

Wilson’s disease; defect and copper excretion that results in Copper deposition into tissues

  1. Kaiser-Fleischer rings - deposits in Descemet’s membrane
  2. Neurologic – dystonia, dysarthria, tremors, ataxia, seizures
  3. Hepatic dysfunction
  4. Decreased serum ceruloplasmin
  5. Elevated serum/urine copper
  6. Copper deposition in hepatocytes
  7. Avoid copper containing food (nuts, liver, shellfish, chocolate)
  8. Chelation therapy with oral penicillamine and zinc
31
Q

Menke’s kinky hair disease – inheritance? Defect? Clinical features? Labs?

A

Excellent recessive disorder; abnormal copper transport

  1. Myoclonic seizures
  2. Kinky friable hair
  3. Optic nerve atrophy
  4. Mental retardation, neurologic degeneration

Low serum ceruloplasmin and copper

Pediatrics (38 decks)

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