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30 Cards in this Set
- Front
- Back
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what is the number of diseases looked for in neonatal screening?
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6
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what are principles for neonatal screening?
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treatable disease with benefit of pre-symptomatic treatment
frequency > 1:100'000 |
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in what time range is the Guthrie test performed?
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72 - 96 hours
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what are the principal disease groups screened for in neonatal screening?
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metabolism disorders of carbohydrates, fat and proteins
and endocrine disorders |
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what are the diseases screened for in neonatal screening in descending frequency?
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primary hypothyroidism 1:4000
adrenogenital syndrome 1:8000 MCAD deficiency 1:10'000 phenylketonuria 1:20'000 galactosemia 1:5000-1:50'000 biotinidase deficiency 1:100'000 |
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what is the disorder in phenylketonuria?
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phenylalanine hydroxylase deficiency (98%) leads to accumulation of phenylalanine and decreased tyrosine levels
or BH4 deficiency (2%) |
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what are the organs primarily affected in phenylketonuria?
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brain and skin
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what kind of metabolic disorder is phenylketonuria?
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most common inborn error of aminoacid metabolism
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what is the therapy in phenylketonuria?
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restrict protein intake according to phenylalanine tolerance
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what kind of metabolic disorder is galactosemia?
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among most common disorders of carbohydrate metabolism
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what is the disorder in galactosemia?
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3 types of enzyme deficiencies of which GALT deficiency is the most common
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what are the manifestations in galactosemia?
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liver failure with jaundice and coagulopathy
E. coli sepsis hypergonadotropic hypogonadism (primary ovarian insufficiency) |
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what are late-onsety complications of galactosemia?
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osteoporosis
hypergonadotropic hypogonadism with infertility in females |
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what is the therapy in galactosemia?
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lactose free, low galactose nutrition, substitute breast feeding with soy milk
calcium substititution hormonal substitution in females |
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what kind of metabolic disorder is biotinidase deficiency?
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ubiquitous enzyme, higher levels in liver, serum and kidney
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what is the disorder in biotinidase deficiency?
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biotin cannot be recycled, leads to secondary decarboxylase deficiencies, needed in amino-acid degradation, fatty acid synthesis and gluconeogenesis
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what are groups of manifestations of biotinidase deficiency?
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neurological with deafness and optic nerve atrophy
dermatological with alopezia and periorificial rash immunological with fungal infections |
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what is the therapy in biotinidase deficiency?
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biotin substitution
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what is the disorder in adrenogenital syndrome?
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group of autosomal recessive disorders with deficiency of an enzyme involved in the synthesis of cortisol, aldosterone or both
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under what name is adrenogenital syndrome also known?
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congenital adrenal hyperplasia
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what are the enzyme deficiencies most commonly found in adrenogenital syndrome?
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21-hydroxylase >90%
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what are the pathways affected by 21-hydroxylase deficiency?
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cortisol and aldosterone levels are reduced
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what are the products accumulated in 21-hydroxylase deficiency?
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progesteron, 17-hydroxypregnenolone and especially
17-hydroxyprogesterone |
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what are the effects of 17-hydroxyprogesterone accumulation?
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transformation to DHEA (dehydroepiandrosteron), androstendione and testosterone
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what are the clinical manifestations in severe adrenogenital syndrome?
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ambiguous genitalia, vomiting due to salt-wasting and hypoglycemia
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what are the therapy principles in adrenogenital syndrome?
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substitution of glucocorticoids
mineralocorticoid substitution surgical correction of genital virilization |
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what is the pathophysiology of adrenogenital syndrome?
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poor cortisol synthesis leads to increased ACTH levels with consecutive bilateral adrenal hyperplasia
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what is the disorder in MCAD deficiency?
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disturbance of mitochondrial fatty acid beta oxidation leading to impaired ketogenesis leading to hypoglycemia
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what does MCAD stand for?
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medium chain acyl-CoA dehydrogenase
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what is the therapy in MCAD?
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avoid prolonged fasting
carnitine substitution |
