Scripps Center for Mass Spectrometry

Detectable disorders include metabolic disorders, hematologic disorders, and endocrinopathies. These three groups of disorders account for approximately 3,000 new cases of potentially fatal or debilitating disease each year for which outcomes are improved with early identification and treatment through newborn screening systems.

Amino Acid Disorders
Fatty Acid Oxidation Disorders

Disease:	Argininemia
Metabolite:	Cit and Arg
Incidence:	1 in 300,000- 1 in 1,000,000
Symptoms:	Muscle stiffness, developmental delay and mental retardation.
Treatment:	A low protein diet to prevent arginine and ammonia build up and there are medications that help the body get rid of excess arginine and ammonia
Age of Onset:	2 months- 4 years old
Animal Equivalents:	Afects the final stage in the urea cycle in the liver so therefore all mammals are potential victims of Argininemia…(ureatelic animals(animals with the urea cycle)
Metabolite Concentration Level Range:	Arginine and citrulline elevated. Arg - 152-1756uM
Prognosis:	Good prognosis if disorder is treated prospectively from birth, progressive neurological manifestations if untreated
Metabolite + Missing or Ineffective Enzyme —> Result:	Arginine + arginase enzyme —> ammonium, arginine, citrulline, lysine, and ornithine levels rise (Arginine)

Disease:	Argininosuccinic Aciduria (ASA)
Metabolite:	Cit
Incidence:	1 in 70,000
Symptoms:	Lack of appetite, vomiting, listlessness, seizures, and coma
Treatment:	Treatment may include a high-caloric, protein-restrictive diet, arginine supplementation, administration of sodium benzoate and sodium phenylacetate. It may be necessary to prescribe dialysis in some cases.
Age of Onset:	Disease is present at birth but symptoms aren’t present until days or weeks after birth
Animal Equivalents:	Potentially all Mammals
Metabolite Concentration Level Range:	Patient has condition if Cit <51 μmol/L
Prognosis:	Natural History without Treatment: Mental and physical retardation due to hyperammonemia, cylic vomiting, seizures, cerebal edema and trichorrhexis nodosa. Coma and death possible. Natural History with Treatment: Normal mental and physical development is possible if treatment is initiated before hyperammonemic crisis.
Metabolite + Missing or Ineffective Enzyme —> Result:	Argininosuccinate+ Argininosuccinase —> ammonia, citrulline, glutamine, and urine argininosuccinic acid buildup (Arginine)

Disease:	2, 4-Dienoyl-CoA Reductase Deficiency (DE RED)
Metabolite:	C10:2
Incidence:	1 in 100,000
Symptoms:	Dysmorphism, early death, feeding difficulties, poor feeding, hypotonia, microcephaly, respiratory acidosis and vomiting
Treatment:	A formula containing fat derived from medium-chain triglycerides (MCT), administering pharmacologic doses of carnitine, and avoiding fasting
Age of Onset:	Disorder present at birth
Animal Equivalents:	Unknown
Metabolite Concentration Level Range:	Patient has condition if C10:2 < .1 μmol/L
Prognosis:	Unknown
Metabolite + Missing or Ineffective Enzyme —> Result:	Unknown

Disease:	Neonatal Carnitine Palmitoyltransferase Type I Deficiency
Metabolite:	C0
Incidence:	1 in 100,000
Symptoms:	Hypoketotic hypoglycemia, Encephalopathy, Enlarged liver, High blood level of carnitine, Mild metabolic acidosis, Lactic academia, Hyperammonemia, Increased transaminases, Low blood sugar, Loss of consciousness, Seizures, Muscle weakness, Nervous system damage
Treatment:	Avoid fasting, MCT oil supplement and avoid dietary long-chain fatty acids
Age of Onset:	8-18 months from birth
Animal Equivalents:	Unknown
Metabolite Concentration Level Range:	Patient has condition if C0 > 100
Prognosis:	Natural history without treatment: While most patients have survived infancy and acute hypoglycemic episodes, some have suffered permanent neurological deficits. Death has occurred during acute episodes in some cases. Natural history with treatment: Theoretically normal development if hypoglycemia and cardiac involvement can be prevented.
Metabolite + Missing or Ineffective Enzyme —> Result:	Unknown