Term
| Phenylketonuria (definition) |
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Definition
Loss of Phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine and shunt pathway products
Can't convert phenylalanine to tyrosine |
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Term
| PKU byproducts secreted in the urine |
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Definition
Phenylpyruvic acid
Phenyllactic acid
Phenylacetic acid
o-Hydroxyphenylacetic acid |
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Term
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Definition
| BH4 deficiency/synthesis/recycling problems |
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Term
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Definition
PKU symptoms that are not arrest able
Disturbed synthesis of neurotransmitters |
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Term
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Definition
Strong mousy odor (due to phenyl acetic acid in the urine)
Sever mental retardation by the 6th month
Depigmented skin and hair; eczema
1/3 will never walk
2/3 will never talk |
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Term
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Definition
| Newborn presents with microcephaly, mental retardation, and congenital heart defects due to mother with PKU not adhering to her diet. |
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Term
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Definition
Deficiency in GALT, the second enzyme in UDP-glucose synthesis from galactose.
(Alt: Lack of Galactokinase) |
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Term
| Galactesemic byproducts that cause symptoms |
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Definition
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Term
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Definition
Failure to thrive
Jaundice
Hepatomegaly
6-12 months --> mental retardation
Aminoaciduria
Fulminant E. coli septicemia |
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Term
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Definition
| Early removal of galactose from the diet for at least the first 2 years of life |
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Term
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Definition
Chronic lung infections
Pancreatic insufficiency
Steatorrhea
Malnutrition
Hepatic cirrhosis
Male infertility
Constipation |
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Term
| Pseudomonas auruginosa virulence |
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Definition
| Alginate- permits a biofilm around the colonies |
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Term
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Definition
| Causes exocrine gland atrophy and progressive fibrosis |
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Term
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Definition
| Thick mucus plugs that cause bowel obstruction in CF patients |
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Term
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Definition
bronchioles are distended
Marked hyperplasea and hypertrophy of mucus secreting cells |
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Term
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Definition
Caused by the Burkholderia cepacia complex
WORST LUNG INFECTION IN CF |
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