Introduction
Case presentation
Clinical examinations
Paraclinical tests
Newborn screening tests | Results | Normal range | Unit |
---|---|---|---|
Neonatal screening | |||
AST | 75 | 26–75 | U/L |
ALT | 27 | 11–46 | U/L |
ALP | 178 | 25–500 | U/L |
Bill | 7.5 | 3–17 | µmol/L |
PT | 12 | 11–14 | Seconds |
PTT | 30 | 25–40 | Seconds |
Chol | 192 | 158.8 ± 44 | mg/dL |
TG | 180 | 136.9 ± 97 | mg/dL |
Serum ammonia | 25 | 15–45 | m/dL |
Serum lactate | 1/5 | 0.5–2.2 | mmol/L |
Hgb | Unremarkable | 13.7–20.1 | g/dL |
TSH | < 10 | < 10 | mU/L |
17-OH progesterone | < 15 | < 15 | ng/dL |
Galactose | < 15 | < 15 | mg/dL |
Galactose 1-P-uridyl transferase | > 20 | > 20 | %Activity |
Biotinidase | < 5 | < 5 | %Activity |
Succinylacetone | > 30 | > 30 | µmol/L |
Disorders of amino acid metabolism | |||
Arginosuccinase | 0.5 | < 1.5 | µmol/L |
Leucine + isoleucine | 113 | < 300 | µmol/L |
Valine | 70 | < 250 | µmol/L |
Citruline | 8 | < 60 | µmol/L |
Methionine | 19 | 8–100 | µmol/L |
Phenylalanine | 29 | < 150 | µmol/L |
Tyrosine | 36 | < 125 | µmol/L |
Disorders of beta oxidation of fatty acids | |||
MCADD, VLCADD, LCHADD | Unremarkable | – | – |
Disorders of carnitine metabolism | |||
Acyl carnitines | Unremarkable | – | – |
Disorders of organic acids | |||
Isovalerylcarnitine | Unremarkable | – | – |
Glutaric acid | Unremarkable | – | – |
Defects of urea cycles | |||
Citrulline | Unremarkable | – | – |
Argininosuccinate | Unremarkable | – | – |
Acid sphingomyelinase deficiency | |||
Acid sphingomyelinasea | 449 | 200–3500 | pmol/spct 20 h |
Beta-galactosidase deficiency | |||
Beta-galactosidasea | 542.5 | 200–500 | nmol/spct 21 h |
Acid β-glucosidase (Gaucher Disease) | |||
Acid β-glucosidasea | 0.79 | 0.5–3.5 | pmol/spct 20 h |