May 5th Flashcards
Homocystenuria
Intelectual disaility
Marfanoid-like
Lens sublaxation (dislocation)
LIM
Neurofibromatosis 2
Memingiomas and bilateral schwannomas
Autosomal dominant
LDL receptor deficiency
AD Xanthoma in achilles tendon Arcus lipoides (opaque rings on edge of iris)
Pallegra
Niacin deficiency (3 Beefy Ds) Dermatitis Diarrhea Dementia Beffy glossitis
Crigler NAjjar syndrome
UDP-glucoronyosyltransferase Deficiency
AR
Jaudince, elevated unconjugated, kericterus
MArfans
Chormosome 15, Aortic dilation -> regurge Mitral valve prolapse Fibrillin Dislocated lens
Introns sequence
Begin with 5’GU and end with AG3’
Cri-du-chat
Microcephaly
Vetnricular septal defect
Mewing cry
Chromosome 5 deletion
Wiskott Aldrich syndromeRecurrent infections
Thrombocytopenia (recurrent nose bleeds)
Purpura
Excimax
Edward’s syndrome
Malformed ears Ocular hypertelorism Syndactylyl Congential heart issues Trisomy 18
Gilberts syndrome
UDP glucorynyl transtrerase deficiecy
Random jaundice when fasting.
Secondary structure of proteins are held together by
Hydrogen bonds
Alkaptonuria
Homogentisic acid dioxygenase
AR
Tyrosine can’t be broken down. Hyperpigmentation AND urine turns black if allowed to sit.
Primary carnithine deficiency
Myopathy
Cardiomyopathy (S3 gllop)
Hypoketotic hypoglycemia
Can’t make Acetyl CoA from fatty acid
Transaminations are helped by
Pyridoxine (vitamin B6)
What degrades bilirubin into bilivedin
Heme oxygenase
Biliverdin reductase into unconjugated bilirubin
HPV can infect
True vocal cords. Respiratory epithelium is collumnar like cervix but doesnt have protective cilia