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79 Cards in this Set
- Front
- Back
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Smith-Lemli-Opitz syndrome |
cholesterol synthesis problem - microcephaly, low-set ears, ptosis - epicanthal folds - broad nasal tip, anteverted nares - 2/3 toe syndactyly - male cryptorchidism/hypospadias/ambiguous genitalia - intellectual/behavioral problems DHCR7 gene (AR) |
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Zellweger syndrome |
- large hypotonic infants - hepatomegaly - high forehead w/ flat facies - FTT - peroxisomal disorder |
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complications of maternal PKU |
- microcephaly - MR - cardiac defects |
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mousy smell |
- PKU |
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maple syrup smell |
- MSUD |
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cabbage-like smell |
- tyrosinemia |
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Tom Cat smell |
- 3-CH3-crotonyl CoA Carboxylase multiple carboxylase deficiency |
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Sweaty feet |
- isovaleric acidemia - glutaric acidemia II |
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ammonia smell |
- urea cycle - MMA - propionic |
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most common peroxisomal disorder |
- X-linked adrenoleukodystrophy |
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most severe peroxisomal disorder |
- Zellweger syndrome |
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RCDP1 Rhizomelic Chondrodysplasia Punctata |
- rhizomelic shortening of the long bones - calcifications at epiphiseal plates - congenital cataracts - severe DD/ID - fatal by 10y ** peroxisomal storage disorder (AR) |
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X-linked Adrenoleukodystrophy |
- behavior changes - progressive dementia - neurologic deterioration - shortened lifespan ** peroxisomal storage disorder (XLR) *** also a leukodystophy - shows high levels of long chain fatty acids in blood and fibroblast |
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Metachromatic Leukodystrophy |
- personality/behavioral problems - seizures/ataxia - DD - limb pain - speech slurring - shortened lifespan ** lysosomal storage disorder (AR) *** also a leukodystrophy - shows arylsulfatase in WBC and skin fibro |
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Canavan disease |
- macrocephaly - seizures - appear normal for first few months, followed by loss of milestones - usually fatal by 10y ** lysosomal storage disorder (AR) *** also a leukodystrophy |
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Krabbe disease |
- muscle weakness - vision loss - mental regression - hypertonia - usually fatal by 13m ** lysosomal storage disorder (AR) *** also a leukodystrophy |
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Mucolipidosis II (I-Cell disease) |
- MR - multiple skeletal abnormalities (claw-shaped hands, kyphosis/scoliosis, short stature) - coarse facial features - usually fatal by 5-6y ** lysosomal storage disorder (AR) |
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Fabry disease |
- pain crises - renal insufficiency - L ventricular hypertrophy - reduced life expectancy ** lysosomal storage disorder (XLR) - carrier females can show sx |
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Gaucher disease |
- hepatosplenomegaly - skeletal problems - bruising/anemia - kidney/lung problems - normal lifespan with treatment ** lysosomal storage disorder (AR) |
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Niemann-Pick |
Type A: - psychomotor deterioration, hepatomegaly, cherry red spot in eye, hypotonia/weakness - shortened lifespan Type B: - seizures, dementia - normal lifespan ** lysosomal storage disorder (AR) |
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Fucosidosis |
- MR - enlarged veins/abdominal organs - shortened lifespan ** lysosomal storage disorder (AR) |
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Alpha Mannosidosis |
- Type 1 (mild): myopathy w/ slow progression, normal lifespan - Type 2 (moderate): most common, myopathy w/ slow progression, ataxia @ 20-30y, skeletal abnormalities, life expectancy = 20-30y - Type 3 (severe): immediate onset, early childhood death from CNS involvement/infection *** lysosomal storage disorder (AR) |
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Neuronal Ceroid Lipofuscinosis |
- MR/sz/dementia - ataxia/hypertonia - variable lifespan *** lysosomal storage disorder (AR) |
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Hurler/Scheie syndrome (MPS1) |
- MR - cloudy corneas - dwarfism - deafness - coarse facial features (Hurler) - Hurler: shortened lifespan; Scheie: longer survival *** lysosomal storage disorder (AR) |
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Hunter syndrome (MPS II) |
- deafness - aggressive behavior - bone/joint abnormalities - hepatosplenomegaly - shortened lifespan (earliest onset/most severe of MPS) *** lysosomal storage disorder (XLR) |
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MPS VI |
- corneal clouding - macrocephaly - hepatosplenomegaly - shortened lifespan *** lysosomal storage disorder (AR) |
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MPS VII |
- corneal clouding - macrocephaly - hepatosplenomegaly - severe cases present with hydrops/early demise *** lysosomal storage disorder (AR) |
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predispose to infection |
- galactosemia (gram-neg sepsis) - propionic acidemia (neutropenia) - methylmalonic acidemia (neutropenia) - mitochondrial disease (Pearson) (pancytopenia) - Gaucher disease (neutropenia, splenomegaly) - glycogen storage type 1B (neutropenia) - lysosomal storage (otitis media, resp infections, splenomegaly) |
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urea cycle disorders |
chronic sx: - poor feeding/anorexia - protein aversion - vomiting - +/- hypotonia - +/- DD Recurring: - vomiting - lethargy/coma - seizures - resp alkalosis - high ammonia |
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organic acidemia disorders |
Chronic sx: - poor feeding/anorexia - +/- protein aversion - vomiting - hypotonia - DD/MR recurring: - vomiting - lethargy/coma - seizures - metabolic ketoacidosis - +/- high ammonia - +/- hypoglycemia |
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biotinidase deficiency |
- hypotonia, seizures - eczema, alopecia - hearing loss, retinal disease |
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glutaric acidemia type 1 |
- macrocephaly - unusual fluid collections pre-frontal and temporal lobes - 'metabolic stroke-like features' causing severe dystonia and motor impairment |
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Lysosomal Acid Lipase Deficiency (LAL) |
- hepatosplenomegaly - liver damage - jaundice - diarrhea - malnutrition/FTT LIPA gene (AR) *** lysosomal storage disorder (fats cannot be broken down and build up to toxic levels) two variants: Wolman's (early onset), CESD (later onset) |
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Pompe |
Infantile (complete loss of enzyme) - dx by 5m - poor feeding/FTT - muscle weakness - resp problems - cardiomyopathy Late-onset (partial enzyme production) - no cardiac - macroglossia - hepatomegaly - resp probs - muscle weakness *** glycogen storage disorder (AR) |
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glycogen storage disorder type 3 |
- ketotic hypoglycemia - hepatomegaly - hyperlipidemia - cardiac/skeletal myopathy AGL gene (AR) - affected mothers can have complications |
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McArdle disesase |
- exercise intolerance - rapid fatigue/weakness, myalgia, stiffness/cramps PYGM gene (AR) *** glycogen storage disorder |
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glycogen storage disease type 6 |
- hepatomegaly - hypoglycemia - hypotonia - hyperketosis - hyperlipidemia - slight motor delays PYGL gene (AR) *** glycogen storage disorder |
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Muscle Phosphofructoskinase deficiency (aka glycogen storage disease type 7) |
- exercise intolerance/fatigue, muscle cramping 3 types - infantile = childhood death - classic/late onset = relatively minor, require lifestyle changes |
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Fructose-1, 6-Diphosphotase deficiency |
- intolerance to fasting - hepatomegaly - lactic acidosis - hypoglycemia FBP1 gene (AR) *** monosaccharide synthesis disorder liver is unable to form glucose while fasting |
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Glutaric Aciduria type 1 |
- macrocephaly - muscle spasms - FTT - sudden-onset dystonia |
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Methylmalonic acidemia |
- metabolic crisis - learning disabilities - hepatomegaly MUT/MMAA/MMAB/MMADHC/MCEE genes (AR) *** organic acidemia |
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Propionic acidemia |
- muscle spasms - growth delay - seizures/stroke leading to MR *** organic acidemia (AR) |
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Maple Syrup Urine disease |
- maple syrup odor in urine/ear wax - metabolic crisis/coma/death *** organic acidemia (AR) |
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Can clinically look like Marfan (arachnodactyly, ectopia lentis, myopia) |
homocystinuria |
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both deal with copper storage |
Menkes and Wilson disease |
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leukodystrophies |
Krabbe (globoid cell) Metachromatic X-linked adreno Canavan Mitochondrial |
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tyrosinemia I |
- FTT - liver probs - renal tubular acidosis - neurological crisis similar to porphyria *** organic acidemia (AR) |
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homocystinuria |
- marfanoid habitus - myopia/ectopia lentis - thrombosis - ID/DD - seizures *** organic acidemia (AR) |
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Glycine Encephalopathy |
- seizures - spasticity - hypotonia - DD *** organic acidemia (AR) |
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Ornithine Transcarbamylase deficiency |
- vomiting - lethargy - seizures - DD - liver damage - brittle hair and skin ***organic acidemia (XLR) |
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pyruvate dehydrogenase complex deficiency |
- nausea - vomiting - breathing/heart probs - structural abnormalities in brain *** affects mitochondria (XLR) females also affected metabolic sx more common in males, neurological sx more common in females |
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Pyruvate carboxylase deficiency |
- vomiting - muscle weakness - fatigue - breathing difficulty PC gene (AR) *** affects mitochondria |
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LHON |
inherited form of vision loss (progressive) - onset late teens to early 20s - males 4-5X more likely to lose vision (50% penetrant in males, 10% in females) *** mitochondrial
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Kearn Sayre |
- retinitis pigmentosa - myopathy - cardiomyopathy - cardiac conduction defect *** mitochondrial |
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MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)/MERRF (myoclonic epilepsy and ragged red fibers) |
- affects heart, brain and muscles - progressive and fatal - manifestation depends on tissue load and location *** mitochondrial |
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Maternally Inherited Leigh Syndrome (MILS) and Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) |
- can't break down food and O2 to make food - variable sx d/t heteroplasmy - can have lactic acidosis, encephalopathy, cardiomyopathy, and resp probs *** mitochondrial |
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Alpers |
- progressive degeneration disease of the CNS - usually onset in childhood, usually fatal - seizures - liver dysfunction/failure - progressive encephalopathy *** AR inheritance but affects mitochondria |
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Chronic Progressive External Ophthalmoplegia (CPEO) |
- adult onset - ptosis - paralysis of the eye *** AR inheritance but affects mitochondria |
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Carnitine Palmitoyltransferase-1 (CPT-1) deficiency |
- illness after fasting - seizures - liver failure *** fatty acid oxidation (AR) if mom is carrying affected fetus, can have fatty liver during pregnancy |
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Carnitine Palmitoyltransferase 2 |
- seizures - liver/resp probs - very variable *** fatty acid oxidation (AR) has 3 types |
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Very long chain acyl-CoA dehydrogenase deficiency |
- hypoglycemia - low energy - muscle weakness sx triggered by fasting, illness, exercise 3 types: early-onset, childhood, adult *** fatty acid oxidation (AR) |
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Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) |
- hypotonia - hypoglycemia - feeding probs - liver/retina probs HADHA gene (AR) *** fatty acid oxidation |
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Short chain acyl-CoA dehydrogenase deficiency (SCAD) |
- most patients are asx - some can be severe (vomiting, hypotonia, hypoglycemia, lethargy, FTT) *** fatty acid oxidation (AR) |
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Lowe (OculoCerebroRenal) syndrome |
- congenital cataracts - ID (variable) - renal failure OCRL gene (XLR - XL lethal) *** error in cell signalling |
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Lesch-Nyhan |
- self-injuring behavior - poor muscle control - moderate MR *** leads to overproduction of uric acid (XLR) |
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Multiple carboxylase deficiency/biotinidase deficiency |
- seizures - hypotonia - resp probs - DD - hearing/vision probs - skin rash - alopecia BTD gene (AR) |
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Acute porphyria |
- neurologic, GI, and psychiatric sx - can present as psychiatric emergencies - environmental factors/triggers strongly implicated HBMS gene (AD - low pen, variable expr) *** disruption in heme synthesis |
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Wilson's disesase |
- copper buildup - cirrhosis of the liver - abdominal pain - internal bleeding - anemia - neurological/psychological probs *** copper storage disorder (AR) |
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Galactosemia |
- FTT - jaundice - renal failure - hepatosplenomegaly - cataracts *** accumulation of galactose (AR) classic type = most common/severe majority of females have POF |
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Conditions that affect the health of the mother during pregnancy |
- LCHAD - PKU - CPT-1 - MSUD - GSD-3 |
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XLR conditions |
- Fabry - OTC - Hunter - Lowe - Lesch-Nyhan - XL Adrenoleukodystrophy - Pyruvate dehydrogenase deficiency |
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AD condition |
- Porphyria - CPEO |
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Disorders affecting mitochondria |
- LHON - Kearn Sayre - MELAS/MERRF - Glycine Encephalopathy - Pyruvate dehydrogenase complex deficiency - Pyruvate carboxylase deficiency - Leigh - Alpers |
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Mitochondrial inheritance |
- Leigh (MILS) and NARP - MELAS/MERRF - LHON - Kearn-Sayre |
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Lysosomal storage disorders |
- Metachromatic Leukodystrophy - Canavan - Krabbe - Mucolipidosis II - Fabry - Niemann-Pick - Alpha Mannosidosis - Hurler/Scheie - Neuronal ceroid lipofuscinosis - Lysosomal Acid Lipase deficiency (LAL) - Gaucher - Fucosidosis - Hunter - MPS VI/VII |
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Amino acid metabolism |
- Glutaric Aciduria type 1 - Methylmalonic acidemia - Proprionic acidemia - MSUD - Tyrosinemia I - Homocystinuria - Glycine encephalopathy - Ornithine transcarbamylase deficiency |
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Glycogen storage |
- Pompe - GSD III/IV - McArdle - Muscle phosphofructokinase deficiency (GSD VIII) |
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Fatty acid oxidation |
- Carnitine Palmitoyltransferase-1 (CPT-1) - CPT-2 - VLCHAD - SCAD - LCHAD |
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Peroxisomal storage disorder |
- Rhizomelic Chondroplasia Punctata - X-linked Adrenoleukodystrophy - Zellweger |
