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AR- GIRTAATDH Hartnup Autosomal Recessive Gastrointestinal and Renal tubules Transport of Natural Amino Acids e.g Tryptophans Deficiency Hartnup disease.
Maple Syrup Urine Disease ILV VLSFD-PFYID MSUD-AKAD Isoleucine Leucine Valine (+) Vomiting Lethargy Seizure Failure to thrive Dystonia Poor feeding and pale yellow color Intellectual Disability Maple syrup urine odor a-ketoacid dehydrogenase deficiency
CGD CAT Need PLACESS to Belch their Hairball. Catalase positive Organisms Nocardia Pseudomonas Listeria Aspergillus Candida E.coli Serratia Staphylococci B.cepacia H.pylori
Chronic Granulomatous Disease PLaHeBour pNLASUTGIGO CGD Pallor (duo to anemia) Lymphadenopathy Hepatomegaly Bowel Obstruction Urinary retention Recurrent infections: Pneumonia LIver Abscess Skin granulomas Urinary tract Granulomas GI granulomas Osteomyelitis
CNS UGT KNJ PhLT Crigler-Najjar Syndrome UDP-Glucoronosyl transferase def. UGT1 gene mutation Kernicterus Neonatal Jaundice Tx. Phototherapy, Plasmapheresis Liver transplantation
PGD HDAD CAGtetralep CAGD-CAAD Polyglutamic Disease or Huntington Disease Autosomal dominant CAG repeat +36 damage of Caudate nucleus results decrease of Ach and GABA and increased Dopamine Chorea Athetosis Akinesia Dementia tx Tetrabenazine & Neuroleptics
OIADONE AciBBGDSS BSHLTe BITEBPh Osteogenesis Imperfecta Autosomal dominant Type1 collagen Col1A1 & Col1A2 Multiple accidents and fractures Brittle Bone Growth delay Saber shin Blue sclerae progressive Hearing loss Teeth discoloration BITE Tr. Bisphosphonate
FASUL-LDID HoloHD-HLFHoph GRFabFCMM Fetal Alcohol Syndrome Upper lip thinning Limb dislocations Intellectual disabilities Holoprosencephaly Heart defect Heart-lung fistula Smooth Hypoplastic philtrum Growth retardation Facial abnormalities Failure of cell migration Microcephaly
PAHBELS GREMOPD MFDIDCHD (HOPISH)PKU Phenylketonuria Phenylalanine Hydroxylase Pale Hair Blue Eyes Light Skin Growth Restriction Eczema Musty Odor Psychomotor Delay Microcephaly Facial Dysmorphism Intellectual Disability Congenital Heart Defects Hpopigmented ISH PAHTHB BH4
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