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BSN II B
DISORDER
CYSTINOSIS
CYSTINURIA
FABRY
DISEASE
CAUSE
SIGNS AND
SYMPTOMS
TREATMENT
lysosomal cystine
rickets, dehydration,
supportive therapy,
transporter defect
cysteamine, kidney
transplantation
kidney stones
alkalinization, oral
transporter defect
sulfhydryl agents
deficiency of alpha-
pain management,
galactosidase A
dialysis, kidney
transplantation, enzyme
replacement therapy
(experimental)
GALACTOSEM
deficiency of
exclusion of galactose
IA
galactose-1-
phosphate
kidney disease,
uridyltransferase
susceptibility to infection,
cataracts
GAUCHER
DISEASE
defect of beta-
enzyme replacement
glucocerebrosidase
therapy, splenectomy,
orthopedic procedures
supplementation of
transport defect
psychiatric abnormalities
nicotinamide, high-
(type I)
HARTNUP
DISEASE
protein diet
HOMOCYSTIN
URIA
defect in
cystathionine beta-
synthase
disease, osteoporosis,
restriction of protein
possible mental
and methionine
retardation, psychiatric
ABANCE, Sherin V.
BSN II B
HUNTER
deficiency of
supportive therapy,
SYNDROME
iduronate 2-
enzyme replacement
sulfatase
therapy (experimental)
HURLER
SYNDROME
deficiency of alpha-
supportive therapy,
L-iduronidase
enzyme replacement
therapy
LESCH-
deficiency of
neurological impairment,
NYHAN
hypoxanthine-
alkalinization,
guanine
allopurinol, extraction of
phosphoribosyltran
failure, self-mutilation
teeth, protective
SYNDROME
sferase
MAPLE
physical devices
deficiency of
neurological deterioration,
protein restriction,
SYRUP URINE
branched-chain
formulas deficient in
DISEASE
alpha-keto acid
branched-chain amino
dehydrogenase
retardation
complex
MAROTEAUXLAMY
forms
deficiency of
supportive therapy,
arylsulfatase B
enzyme replacement
therapy (experimental)
SYNDROME
involvement
MORQUIO
SYNDROME
deficiency of N-
acetylgalactosamin
e-6-sulfatase or
beta-galactosidase
severe skeletal
abnormalities, severe short
stature
supportive therapy
ABANCE, Sherin V.
BSN II B
NIEMANNPICK
neurological deterioration,
sphingomyelinase
DISEASE
(type A)
supportive therapy
PHENYLKETO
low activity of
diet low in
NURIA
phenylalanine
features, behaviour
phenylalanine and
hydroxlase
disturbances, mental
protein, including
retardation if untreated
special formula
lack of alpha-1,4-
supportive therapy,
glucosidase
enzyme replacement
tongue
therapy (experimental)
heme biosynthesis
administration of heme,
defects
high-carbohydrate diet,
rashes, neurological
avoidance of
symptoms
exacerbating factors
mild deficiency of
supportive therapy,
alpha-L-iduronidase
limitation
enzyme replacement
POMPE
DISEASE
PORPHYRIA
SCHEIE
SYNDROME
therapy
TAY-SACHS-
deficiency of beta-
neurological deterioration,
DISEASE
hexosaminidase A
supportive therapy
TYROSINEMI
A
(hepatorenal
defect in
NTBC, a dietary
fumarylacetoacetat
restriction of
e hydrolase
kidney defects
phenylalanine and
ABANCE, Sherin V.
BSN II B
tyrosine, liver
transplantation if
necessary
VON GIERKE
DISEASE
deficiency of
hypoglycemia, enlarged
frequent feedings of
glucose-6-
glucose, liver
phosphatase
transplantation if
necessary