Created by Farrah
almost 10 years ago
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Phenylketonuria
Maple Syrup Urine Disease
Homocystinuria
Galactosemia
Biotinidase Deficiency
Hypothyroidism
Adrenal Hyperplasia
Arginase Deficiency
Arginosuccinic aciduria
(Agininosuccinicate lyase deficiency)
Citrullinemia-1
(Argininosuccinicate synthase deficiency)
Citrullinemia-II
(Citrin-mitochondrial aspartate-glutamate transporter deficiency)
Carbomyl Phophate Deficiency
N-acetyl glutamate synthase
Ornithine transcarbamylase deficiency
Hyperammonemia-Hyperornithinemia-Homocitrullinuria Syndrome
(HHH)
Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
(4-hydroxyphenylpyruvic acid deoxygenate deficiency)
Propionic Acidemia
Methylmalonic Aciduria
Methylmalonyl-CoA mutase deficiency
Cobalamin defects A, B
(Adenosylcobalamin)
Cobalamin defects C, D
Multiple carboxylase deficiency
3-hydroxyisobutyric aciduria
Isovaleric Acidemia
2-methylbutyrylglycinuria
3-Methylcrotonyl-CoA carboxylase deficiency
(3-MCC)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)
Betaketothiolase deficiency
Methylglutaconic aciduria
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Glutaric aciduria type 1
Malonic aciduria
Carnitine uptake defect
Carnitine palmitoyl transferase deficiency type I
Short chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency
Long-chain hydroxyacyl-CoA dehydrogenase deficiency
Tri-functional protein deficiency
Carnitine palmitoyl transferase deficiency type II
Glutaric Aciduria II
(Multiple acyl-CoA dehydrogenase deficiency)
Carnitine/acylcarnitine translocase deficiency
2,4-Dienoyl-CoA reductase deficiency
Hydroxyacyl-CoA dehydrogenase deficiency
Transfusion and NBS
Liver failure and NBS
Renal failure and NBS
Hemolysis and NBS
MCAD carriers and NBS
Valproic acid and NBS
Pavilion acid and NBS
Alkaptonuria
Carbamoyl Phosphate Synthase Deficiency
Hereditary Fructose Intolerance
von Gierke disease
Glycogen Storage Disease Type 1
Cori Disease
Glycogen Storage Disease Type III
Anderson Disease
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type VI
McArdle Disease
Glycogen Storage Disease Type V
Pompe Disease
(GSD-II)
Congenital Adrenal Hyperplasia
Androgen Insensitivity
Familial Hypercholesterolemia
Hurler Syndrome
(MPS type 1)
Hunter Syndrome
(MPS Type II)
Sanfilippo syndrome
(MPS Type III)
Morquio Syndrome
(MPS Type IV)
Maroteaux-Lamy Syndrome
(Mucopolysaccharidosis Type V)
Sly Syndrome
(Mucopolysaccharidosis Type VII)
Tay-Sachs Disease
Gaucher Disease
Niemann-Pick Disease
Lesch-Nyhan Disease
Adenosine deaminase deficiency
Purine nucleoside phosphorylase
Hereditary orotic aciduria
Acute intermittent porphyria
Hereditary coproporphyria
Porphyria Variegata
Congenital erythropoietic porphyria
Erythropoietic protoporphyria
Wilson Disease
Menkes disease
Zellweger Syndrome
Adrenoleukodystrophy
Myolconic Epilepsy and Ragged Red Fiber Disease
MERRF
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
MELAS
Leigh Disease
Leber Hereditary Optic Neuropathy
Barth Syndrome
Guthrie Test
Maternal Phenylketonuria
Smith-Lemli-Opitz Syndrome
Neurodegeneration, Ataxia, and Retinitis Pigmentosa
NARP
Na Benzoate and Na Phenylbutyrate
Gyrate Atrophy
Creatine Deficiency Syndromes
Cystinosis
Nonketotic Hyperglycinemia
Canavan Disease
Pyruvate Dehydrogenase Deficiency
Mitochondrial Depletion Syndromes
Pearson Syndrome
Kearns-Sayre Syndrome
N-glycosylation defects
O-glycosylation defects
PMM2-CDG
(CDG 1a)
MPI-CDG
(CDG 1b)
SRD5A3-CDG
(CDG 1q)
Fabry Disease
Rhizomelic Chondrodysplasia Punctata
I-cell disease
Impaired tetrahydrobiopterin metabolism
Impaired tetrahydrobiopterin synthesis
Dopa-responsive Dystonia
Sandhoff Disease
Deafness mtDNA
Lipoprotein Lipase Deficiency
Metachromatic leukodystrophy
Krabbe Disease
Urine oligosaccharide chromatography
Lysinuric Protein Intolerance
Hartnup Disease
Cystinuria
Pyridoxine-dependent seizures
Cerebral Folate Deficiency
GLUT1 deficiency
Mitochondrial Neurogastrointestinal Encephalomyopathy
(MNGIE)
Chronic Progressive External Ophthalmoplegia
(CPEO)
Refsum Disease
Farber lipogranulomatosis
Wolman Disease
(Acid Lipase Deficiency)
Schindler Disease
Pycnodysostosis
Happle Syndrome
Fructose 1,6 bisphosphatase Def
Sulfite Oxidase Deficiency/
Molybdenum Cofactor Deficiency
Porphyria Cutanea Tarda