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