Table 2 Proband’s metabolic investigations

FBS (P)

98 mg/dL

Sodium (P)

140 mEq/L

BUN (P)

11 mg/dL

Potassium (P)

3.8 mEq/L

Creatinine (P)

0.6 mg/dL

Chloride (P)

102 mEq/L

Cholesterol (P)

164 mg/dL

17-OH-Progesterone (DBS)

< 5 nmol/L

Triglyceride (P)

63 mg/dL

TSH (DBS)

< 4 mU/L

HDL (P)

49 mg/dL

Ketone (U)

Negative

LDL (P)

102 mg/dL

Amino-acid TLC (U)

Normal pattern

SGOT (P)

22 IU/L

Ferric Chloride Test (U)

Negative

SGPT (P)

18 IU/L

DNPH Test (U)

Negative

CPK (P)

167 IU/L

Na-Nitropruside Test (U)

Negative

Lactate (P)

7.8 mg/dL

Amino-acids (DBS) (TMS)

unremarkable

Ammonia (B)

44 mcg/dL

Acylcarnitines (DBS) (TMS)*

unremarkable*

Galactose (DBS)

< 18 mg/dL

Isovalerylcarnitine (DBS)

unremarkable

GALT (DBS)

> 20% act

Glutaric acid (DBS)

unremarkable

PH (VBG)

7.392

Citrulline (DBS)

unremarkable

PCO2 (VBG)

32.1 mmHg

Arginosuccinate (DBS)

unremarkable

HCO3 (VBG)

19 mmol/L

Succinylacetone (DBS)

<5 μmol/L

BE (VBG)

-3.4 mmol/L

Biotinidase (DBS)

>40%act