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2-methyl-3-OH butyruc Aciduria
2-methylbutyryl-CoA
dehydrogenasa def.
3-OH-3-methyl Glutaric aciduria
(3-OH methylglutaric-CoA Lyase def.)
(HMG)
3-Methylcrolonyl-CoA carboxylase def. (3MCC)
3-Methylglutaconic aciduria
(3-methylglutaconyl-CoA Hydratase def)
Beta-ketothiolase def. (BKY)
Glutaric acidemia type 1 (GA1)
Isovaleric acidemia (IVA)
Isobutyryl-CoA
dehydrogenase def.
Malonic aciduria (MAL Methylmalonic Acidemia
(mutase def) (MUT)
Methylmalonic Acidemia (Cbl A.B)
Methylmalonic Acidemia (Cb C.D)
Multiple Carboxilase def. (MCD)
Propionic acidemia (PA)
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Camitine/acylcarnitine
translocase def.
Carnitine uptake defect (CUD)
CPT-IA
CPT-II
Dienoyl-CoA reductase def
Glutaric academia II/MADD
LCHAD
Medium chain ketoacyl-CoA
thiolase def. (MCKAT)
MCAD
MCHAD
SCAD
SCHAD
Trifunctional protein def.
(TFP)
VLCAD
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5-Oxoprolinuria (Pyroglutamic Aciduria)
Argininemia
Argininosuccinic acidemia (ASA)
Biopterin cofactor biosynthesis defects (subtype
of hyperphe)
Biopterin cofactor regeneración defects (subtype
of hyperphe)
Carbamoylphosphate Synthetase def. (CPS)
Citrullinemia (CIT)
Citrullinemia (CIT-II)
Homocystinuria (HCY)
Hyperamonemia
Hyperomithinemia
Homocitrullinemia Sind (HHH)
Hypemethininemia
Hypemethininemia con Gyral
AtrophyHyper-PHE
MSUD
PKU
Tyrosinemia tipo 1
Tyrosinemia tipo 2
Tyrosinemia tipo 3
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G6PD deficiencia
Hb S/Beta Thalassemia
Hb S/C enfermedad
Sickle Cell anemia (Anemia Falciforme)
Variant Hb
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Biotinidase (Bio)
Congenital
Adrenal Hyperplasia (CAH)
Congenital
Hypothyroidism (CH)
Cystic Fibrosis
Galactosemia
Galactosemia (epimerase)
Galactosemia (kinase)
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