Term
Findings: Peripheral neuropathy of hands/feet Angiokeratomas CV/Renal disease |
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Definition
Fabry's Disease alpha-galactosidase A deficienct X linked recessive |
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Term
Hepatosplenomegaly, aseptic necrosis of the femur, bone crisis. |
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Definition
Gaucher's Disease Autosomal recessive deficiency: beta-glucocerebrosidase most common lysosomal storage disease |
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Term
Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula |
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Definition
Niemann-Pick disease sphingomyelinase deficiency Autosomal recessive |
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Term
Progressive neurodegeneration, cherry red spots, developmental delay, lysozymes with onion skin |
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Definition
Tay Sachs disease deficiency: hexosaminidase A autosomal recessive |
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Term
Peripheral neuropathy, developmental delay, optic atrophy |
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Definition
Krabbe's disease deficiency: beta galactosidase Autosomal recessive |
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Term
Central and peripheral demyelination, ataxia, dementia |
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Definition
Metachromatic leukodystrophy deficiency: Arylsulfatase A Autosomal recessive |
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Term
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. |
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Definition
Hurler's disease deficiency: alpha-L-iduronidase Autosomal recessive |
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Term
Mild Hurlers, aggressive behavior, no corneal clouding |
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Definition
Hunter's syndrome Iduronate sulfatase X-linked recessive |
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Term
Severe fasting hypoglycemia, high liver glycogen, high blood lactate, hepatomegaly. |
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Definition
Von Gierke's disease Glucose-6-phosphate deficiency |
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Term
| Cardiomegaly, early death |
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Definition
Pompe's disease Lysosomal alpha 1,4-glucosidase deficiency |
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Term
| Fasting hypoglycemia, high liver glycogen, hepatomegaly |
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Definition
Cori's disease (Type III) debranching enzyme alpha 1,6 glucosidase deficiency |
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Term
Increased muscle glycogen (cannot break down). Cramps + myoglobinuria with exercise |
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Definition
McArdle's disease (Type V) deficiency: skeletal muscle glycogen phosphorylase |
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Term
Inability to break down branched chain amino acids (Ile, Val, Leu) |
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Definition
Maple syrup urine disease low alpha-ketoacid dehydrogenase |
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Term
Defect in the renal tubular transporter for cystine, ornithine, lysine, arginine. |
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Definition
Cystinuria treat w/ acetazolamide |
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Term
| Mental retardation, tall stature, kyphosis, lens subluxation, atherosclerosis |
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Definition
Homocystenuria cystathione reductase deficiency |
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Term
| Eczema, immune deficiency, thrombocytopenia, bloody diarrhea |
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Definition
Wiskott-Aldrich Syndrome XLR |
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Term
| Urine turns black on standing |
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Definition
Alkaptonuria deficincy: homogentisic acid oxidase. |
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Term
| Lack of melanin with variable inheritance |
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Definition
Albinism defect is either tyrosinase, tyrosine transporter, or neural crest migration. |
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Term
| Musty body odor, mental retardation, growth retardation, eczema. |
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Definition
Phenylketonuria defect is phenylalanine hydroxylase or THBP cofactor. |
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Term
Retardation, self mutilation, aggression, hyperuricemia, gout, choreoathetosis |
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Definition
Lesch-Nyhan X-linked recessive. lack of HGPRTase (purine salvage) |
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Term
| Congenital lack of T and B lymphocytes |
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Definition
SCID adenosine deaminase deficiency |
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Term
| Cataracts, hepatosplenomegaly, mental retardation |
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Definition
Galactosemia galactose-1-phosphate uridyltransferase deficiency |
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Term
| Infertility, bronchiectasis, recurrent sinusitis |
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Definition
Kartagener's syndrome dynein arm defect results in immobile cilia |
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Term
Hypoglycemia, vomiting, lethargy |
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Definition
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Term
| Retinitis pigmentosa, dry skin, chronic polyneuritis, cerebellar ataxia |
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Definition
Refsum's disease phytanic acid buildup AR |
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