Shared Flashcard Set

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Board Review Mania
Set 1: Biochemistry/Enzyme deficiencies
25
Medical
Professional
02/16/2008

Additional Medical Flashcards

 


 

Cards

Term

Findings: Peripheral neuropathy of hands/feet

Angiokeratomas

CV/Renal disease

 

Definition

Fabry's Disease

alpha-galactosidase A deficienct 

X linked recessive 

Term

Hepatosplenomegaly,

aseptic necrosis of the femur,

bone crisis.

 

Definition

Gaucher's Disease

Autosomal recessive

deficiency: beta-glucocerebrosidase 

most common lysosomal storage disease 

Term

Progressive neurodegeneration,

hepatosplenomegaly,

cherry red spot on macula

 

Definition

Niemann-Pick disease

sphingomyelinase deficiency 

Autosomal recessive 

Term

Progressive neurodegeneration,

cherry red spots,

developmental delay,

lysozymes with onion skin

 

Definition

Tay Sachs disease

deficiency: hexosaminidase A 

autosomal recessive 

Term

Peripheral neuropathy,

developmental delay,

optic atrophy

 

Definition

Krabbe's disease

deficiency: beta galactosidase 

Autosomal recessive 

Term

Central and peripheral demyelination,

ataxia, dementia 

 

Definition

Metachromatic leukodystrophy

deficiency: Arylsulfatase A 

Autosomal recessive 

Term

Developmental delay,

gargoylism, airway obstruction,

corneal clouding, hepatosplenomegaly. 

Definition

Hurler's disease

deficiency: alpha-L-iduronidase 

Autosomal recessive 

 

Term

Mild Hurlers, aggressive behavior,

no corneal clouding 

Definition

Hunter's syndrome

Iduronate sulfatase 

X-linked recessive 

Term

Severe fasting hypoglycemia,

high liver glycogen, high blood lactate,

hepatomegaly.

 

 

Definition

Von Gierke's disease

Glucose-6-phosphate deficiency 

Term
Cardiomegaly, early death
Definition

Pompe's disease

Lysosomal alpha 1,4-glucosidase deficiency 

Term
Fasting hypoglycemia, high liver glycogen, hepatomegaly
Definition

Cori's disease (Type III)

debranching enzyme alpha 1,6 glucosidase deficiency 

Term

Increased muscle glycogen (cannot break down).

Cramps + myoglobinuria with exercise 

Definition

McArdle's disease (Type V)

deficiency: skeletal muscle glycogen phosphorylase 

Term

Inability to break down branched chain amino acids

(Ile, Val, Leu) 

Definition

Maple syrup urine disease

low alpha-ketoacid dehydrogenase 

Term

Defect in the renal tubular transporter for cystine, ornithine, lysine, arginine.

  

Definition

Cystinuria

treat w/ acetazolamide 

Term
Mental retardation, tall stature, kyphosis, lens subluxation, atherosclerosis
Definition

Homocystenuria

 

cystathione reductase deficiency 

Term
Eczema, immune deficiency, thrombocytopenia, bloody diarrhea
Definition

Wiskott-Aldrich Syndrome

XLR 

Term
Urine turns black on standing
Definition

Alkaptonuria

deficincy: homogentisic acid oxidase. 

Term
Lack of melanin with variable inheritance
Definition

Albinism

defect is either tyrosinase, tyrosine transporter, 

or neural crest migration. 

Term
Musty body odor, mental retardation, growth retardation, eczema.
Definition

Phenylketonuria

defect is phenylalanine hydroxylase or THBP cofactor. 

Term

Retardation, self mutilation, aggression,

hyperuricemia, gout, choreoathetosis 

Definition

Lesch-Nyhan

X-linked recessive.

lack of HGPRTase (purine salvage) 

Term
Congenital lack of T and B lymphocytes
Definition

SCID

adenosine deaminase deficiency 

Term
Cataracts, hepatosplenomegaly, mental retardation
Definition

Galactosemia

 

galactose-1-phosphate uridyltransferase deficiency 

Term
Infertility, bronchiectasis, recurrent sinusitis
Definition

Kartagener's syndrome

 

dynein arm defect results in immobile cilia 

Term

Hypoglycemia, vomiting, lethargy

Definition

MCAD deficienct

AR 

Term
Retinitis pigmentosa, dry skin, chronic polyneuritis, cerebellar ataxia
Definition

Refsum's disease

phytanic acid buildup

AR 

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