congenital skeletal deformity Muscle glycogen phosphorylase 25% Tyrosinemia I Galactose in school foods Galactose-1- phosphate uridyltransferase No peroxisomes High protein diet Solute carrier organic anion transporter DNA Testing Gaucher Disease Pentose phosphate pathway 50% boys; 0% girls monitored exercise with sucrose Early childhood Treat symptoms B12 and Iron Degradation of Heme Gargoylism Autosomal recessive Heart Phenobarbital Ammonia >150 umol/L and anion gap <20 Ammonia is toxic to the brain Neonatal period Ashkenazi Jews 1/33 to 1/14 1/1,800 Brain MRI baseline & yearly MRI Darken to brown or black Self harm Urine smells of rancid butter or cabbages infant screening 0% 100% boys; girls will be carriers Valine and leucine any age Fructose free diet Increased hydration Myopia Oxidative stress trigger Phenylalanine hydroxylase Weaning, 6-12 mos Slovakia <1,000 worldwide parent not compliant with prescribed diet 1/1,300 Myelin Calcium phosphate and Carbonate Persistent kidney stones Regression of motor skills Hypotonia Heme Recombinant gene therapy Failure to thrive Glycogen synthase Hepato- splenomegaly & lactic acidosis Hypoglycemia Kidney damage/ failure Adrenoleukodystrophy (Zellweger moderate form) Elevated bilirubin Hepato- splenomegaly Sweet smelling urine Frequent small meals congenital skeletal deformity Muscle glycogen phosphorylase 25% Tyrosinemia I Galactose in school foods Galactose-1- phosphate uridyltransferase No peroxisomes High protein diet Solute carrier organic anion transporter DNA Testing Gaucher Disease Pentose phosphate pathway 50% boys; 0% girls monitored exercise with sucrose Early childhood Treat symptoms B12 and Iron Degradation of Heme Gargoylism Autosomal recessive Heart Phenobarbital Ammonia >150 umol/L and anion gap <20 Ammonia is toxic to the brain Neonatal period Ashkenazi Jews 1/33 to 1/14 1/1,800 Brain MRI baseline & yearly MRI Darken to brown or black Self harm Urine smells of rancid butter or cabbages infant screening 0% 100% boys; girls will be carriers Valine and leucine any age Fructose free diet Increased hydration Myopia Oxidative stress trigger Phenylalanine hydroxylase Weaning, 6-12 mos Slovakia <1,000 worldwide parent not compliant with prescribed diet 1/1,300 Myelin Calcium phosphate and Carbonate Persistent kidney stones Regression of motor skills Hypotonia Heme Recombinant gene therapy Failure to thrive Glycogen synthase Hepato- splenomegaly & lactic acidosis Hypoglycemia Kidney damage/ failure Adrenoleukodystrophy (Zellweger moderate form) Elevated bilirubin Hepato- splenomegaly Sweet smelling urine Frequent small meals
(Print)
G-congenital skeletal deformity
B-Muscle glycogen phosphorylase
I-25%
B-Tyrosinemia I
O-Galactose in
school foods
B-Galactose-1-phosphate uridyltransferase
B-No peroxisomes
O-High
protein
diet
B-Solute carrier organic anion transporter
O-DNA Testing
B-Gaucher Disease
B-Pentose phosphate pathway
G-50% boys; 0% girls
O-monitored exercise with sucrose
G-Early childhood
O-Treat symptoms
O-B12
and
Iron
B-Degradation of Heme
N-Gargoylism
I-Autosomal recessive
N-Heart
O-Phenobarbital
N-Ammonia >150 umol/L and anion gap <20
B-Ammonia
is toxic to the brain
I-Neonatal period
I-Ashkenazi Jews
I-1/33 to 1/14
I-1/1,800
O-Brain MRI baseline & yearly MRI
N-Darken to brown or black
G-Self harm
N-Urine smells of rancid butter or cabbages
G-infant screening
I-0%
G-100% boys; girls will be carriers
B-Valine
and
leucine
G-any age
O-Fructose free diet
O-Increased hydration
N-Myopia
G-Oxidative stress trigger
B-Phenylalanine hydroxylase
G-Weaning,
6-12 mos
I-Slovakia
I-<1,000 worldwide
G-parent not compliant with prescribed diet
I-1/1,300
B-Myelin
O-Calcium phosphate
and
Carbonate
N-Persistent kidney stones
G-Regression of motor skills
N-Hypotonia
B-Heme
O-Recombinant gene therapy
N-Failure to thrive
B-Glycogen synthase
N-Hepato-
splenomegaly & lactic acidosis
N-Hypoglycemia
N-Kidney damage/ failure
B-Adrenoleukodystrophy (Zellweger moderate form)
N-Elevated bilirubin
N-Hepato-splenomegaly
N-Sweet smelling urine
O-Frequent small meals
