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