Inborn Errors of Metabolism Flashcards
Profound inability to tolerate initial milk feedings
Profoundly increased risk of E. Coli-related SEPSIS
Management: Cut out lactose/galactose
Galactosemia
Seborrheic Dermatitis, enteritis, alopecia
Management: Vitamin B7 (biotin) supplementation
Biotinidase Deficiency
Hepatomegaly with eventual liver failure
Failure to thrive
Management: Nitisinone
Tyrosinemia
Failure to thrive Hypoglycemia + lactic acidosis Hepatomegaly Short w/thin arms, fat cheeks Due to Glucose-6-Phosphatase deficiency
Von Gierke Disease
Failure to Thrive
Hypoglycemia
Cardiomegaly
Due to acid maltase deficiency
Pompe Disease
Early onset panacinar emphysema (decreased enzyme)
early onset cirrhosis (increased enzyme in granules)
Alpha-1 Antitrypsin Deficiency
Mental Retardation
Hyperuricemia (gout)
Self-mutilation
Due to HGPRT mutation
Lesch-Nyhan Disease
Erlenmeyer-flask appearance of long bones
due to B-glucosidase deficiency
Gaucher’s Disease
Cherry-red macula
Hepatosplenomegaly
Due to Sphingomyelinase deficiency
Niemann-Pick Disease
Cherry-red macula
NO Hepatosplenomegaly
Hyperacusis (exaggerated startle response)
Due to Hexosaminidase A deficiency
Tay-Sachs Disease
Gargoyle-like facies
Hepatosplenomegaly
Progressive developmental delay
Dx: Urinary Dermatan Sulfate and Heparan Sulfate
Hurler Syndrome
Profound illness following first protein-containing meal
Most common urea cycle disorder
Ornithine Transcarbamoylase (OTC) Deficiency
"HOMO" Tetrad: -Hypercoagulable state (STROKES, DVT's, PE's) -Optic Lens Dislocation -Mental Retardation -Marfanoid Habitus -Osteoporosis Due to Cystathionine B-synthase Management: Vitamin B6 (Pyridoxine) + cysteine supplementation
Homocystinuria
Multiple fractures Blue sclera Abnormal dentition Hearing Loss Due to Defect in Type 1 Collagen
Osteogenesis Imperfecta
Joint Hypermobility
Mitral Valve Prolapse
Aortic Aneurysms or dissection
Due to Defect in Type 3 Collagen
Ehlers-Danlos Syndrome
