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Detectable Disorders

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Table 1. Disorders Detectable by Newborn Screening Using MS/MS

Disorder
Effectiveness of
early treatment
Risk for
acute crisis
Effectiveness of
MS/MS
Disorders of amino acid metabolism
PKU
+++
-
+
Other hyperphenylalaninemias
+
-
+
MSUD
+++
+
+
Homocystinuria
+++
-
(+)
Tyrosinemia type I
+++
-
(+)
Tyrosinemia type II
+++
-
(+)
Citrullinemia
+++
+
+
ASA
+++
+
+
Argininemia
+++
-
(+)
Disorders of organic acid metabolism
GA-1
+++
+
+
Propionic acidemia
+++
+
+
Methylmalonic acidemias
+++
+
+
Isovaleric acidemia
+++
+
+
3-MCC deficiency
+++
+
+
3-MGH deficiency
?
+/-
+/-
Multiple carboxylase deficiency
+++
+/-
+/-
2-MBDH deficiency
?
?
+
Disorders of fatty acid metabolism
Carnitine transport defect
+++
+
+/-
CPT-1 deficiency (liver)
+
+
(+)
CACT deficiency
+
+
+
CPT-2 deficiency      
neonatal onset
-
+
+
late onset
+
-
+
VLCAD deficiency
+
+
(+)
LCHAD deficiency
+
+
(+)
TFP deficiency
+
+
(+)
MCAD deficiency
+++
+
+
MCKAT deficiency
+
+
(+)
M/SCHAD deficiency
+
+
(+)
SCAD deficiency
+
+
+
Functional SCAD deficiency
?
+
+
SCHAD deficiency (muscle)
+
+
-
SCHAD deficiency (fibroblasts)
+
+
+/-
SCHAD deficiency (liver)
+++
+
(+)
SKAT deficiency
+++
+
(+)
ETF & ETF-QO deficiency (GA-2)      
neonatal onset
-
+
+
late onset
+
+
(+)
Riboflavin responsive form(s) (GA-2)
+++
+
(+)
2,4-Dienoyl-CoA reductase deficiency
?
?
(+)
HMG-CoA synthase deficiency
+
+
-
HMG-CoA lyase deficiency
+
+
+
from: Matern D. Endocrinologist 2002;12:50-57

Legend
Abbreviations are as follows, in alphabetical order: 2MBDH, 2-methylbutyryl-CoA dehydrogenase; 3-MCC, 3-methylcrotonyl-CoA carboxylase; 3MGH, 3-methylglutaconyl-CoA hydratase; ASA, Argininosuccinic aciduria; CACT, carnitine acylcarnitine translocase; CPT, carnitine palmitoyltransferase; ETF, electron transfer flavoprotein; ETF-QO, electron transfer flavoprotein ubiquinone-oxidoreductase; GA-1, glutaric acidemia type I; GA2, glutaric acidemia type II; HMG, 3-hydroxy 3-methylglutaryl; LCHAD, long-chain L-3-hydroxy acyl-CoA dehydrogenase; MCAD, medium-chain acyl-CoA dehydrogenase; MCKAT, medium-chain 3-ketoacyl-CoA thiolase; M/SCHAD, medium/short chain L-3-hydroxy acyl-CoA dehydrogenase; MSUD, maple syrup urine disease; PKU: phenylketonuria; SCAD, short-chain acyl-CoA dehydrogenase; SCHAD, short-chain L-3-hydroxy acyl-CoA dehydrogenase; SKAT, short-chain 3-ketoacyl-CoA thiolase (3-ketothiolase); TFP, trifunctional protein; VLCAD, very long-chain acyl-CoA dehydrogenase.

Effectiveness of treatment: +++, demonstrated; +, dietary and preventive measures, -, no effective treatment; §, liver transplantation; ?, insufficient information.

Risk for acute crisis: +, life-threatening metabolic crisis can occur at any age in untreated patients; -, symptoms usually do not present acutely; +/-, not all patients reported presented with acute symptoms; ?, number of patients reported is too small to allow reliable assessment.

Effectiveness of MS/MS: +, demonstrated in blood spots; (+), expected to be effective, but not yet conclusively demonstrated; +/-, questionable effectiveness; -, not effective

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