An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism

Weight will be measured using a digital baby weighing scale (SECA 354) for children younger than 2 years of age and a double-window digital weighing scale (SECA 874) for children older than 2 years of age. This indicator will be used in children aged 0-10 years. The z-scores will be obtained using the World Health Organization (WHO) Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), underweight (<-2SD), or severely underweight (<-3SD).

Height/length will be measured using an infantometer (SECA 416/417) for children younger than 2 years of age and a stadiometer (SECA 213 I) for children older than 2 years of age. The z-scores will be obtained using the WHO Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), stunted (<-2SD), or severely stunted (<-3SD).

This indicator will be used in children aged 0-5 years. The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child is severely wasted (<-3SD), wasted (<-2SD), normal (-2SD to +2SD), overweight (>+2SD), or obese (>+3SD).

Body Mass Index (BMI) will be calculated based on weight and height (kg/m²). The z-scores will be obtained using the WHO Growth Reference 2007 to determine if the child is severely wasted (<-3SD), wasted (<-2SD), normal (-2SD to +2SD), overweight (>+2SD), or obese (>+3SD).

Head circumference will be measured using a calibrated measuring tape (SECA 212). The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child presented with microcephaly (>-2SD), normal (-2SD to +2SD), or macrocephaly (>+2SD).

Fat mass will be measured through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.

Lean mass will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.

Bone mineral density will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines.

Dietary intake will be obtained using a 3-day non-consecutive food record (two weekdays and one weekend). This will be assessed using the Philippine Food Composition Tables (PhilFCT), the US FDA, and other available databases. Mean intake of energy, macro-, and micronutrients will be reported.

The adequacy of intakes will be assessed by calculating the Energy/ Nutrient Adequacy Ratio and recommended requirements will be derived from the condition-specific recommended nutrient intake by the Southeast Regional Genetics Network-Genetic Metabolic Dietitians International, WHO Guidelines, and Philippine Dietary Reference Intakes (2015).

The P:E ratio expressed will be derived from participants' dietary intake data and compared with the P:E ratio calculated from the 1985 FAO/WHO/UNU equation.

Levels of free amino acids in the blood plasma will be quantitatively measured. Three (3) mL of whole blood in sodium heparin will be obtained through venipuncture.

The amount of whole blood in Ethylenediaminetetraacetic acid (EDTA) obtained through venipuncture or finger prick that will be used for analysis is 0.5 mL. To be identified if anemia is present in an individual, hemoglobin levels are low. The values should be below the normal results of the following based on age and sex: 11.0 g/dL for children aged 6 months to 6 years old,12.0 g/dL for 6 to 14 years old,13.0 g/dL for males 15 years old and above, and 12.0 g/dL for females 15 years old and above.

The amount of serum from clotted whole blood obtained through venipuncture that will be used for analysis is 0.5 mL. Retinol values will be considered high if results of participants are greater than 50 µg/dL.

The amount of serum from clotted whole blood that will be used for analysis is 0.3 mL. Normal vitamin D levels lie between the values of 75.0-100.0 nmol/L. Results of 74.0 nmol/L and below are considered deficient, while 101.0 nmol/L and above are considered elevated.

The amount of serum from clotted whole blood obtained from venipuncture that will be used for analysis is 0.3 mL. Vitamin B12 values are increased when results are above 652 pmol/L.

The amount of serum from clotted whole blood obtained through venipuncture that will be used for analysis is 0.5 mL.

Normal values of zinc are grouped physiologically and by the time of sample extraction, considering also whether the individual fasted or not. For children aged 10 and below, non-fasting samples are extracted, and results showing concentrations below 65 µg/dL (AM) and 57 µg/dL (PM) are considered deficient. For females aged more than 10 years, results showing concentrations of zinc in the fasting sample below 70 µg/dL and in the non-fasting sample with results below 66 µg/dL(AM) and 59 µg/dL (PM) are considered deficient. For males aged more than 10 years, results showing concentrations of zinc in fasting samples below 74 µg/dL, non-fasting samples with results below 70 µg/dL(AM), and 61 µg/dL (PM) are considered deficient.

Levels of folic acid are measured quantitatively. The amount of serum from clotted whole blood obtained by venipuncture that will be used for analysis is 0.3 mL.

The overall risk of malnutrition will be evaluated using the Pediatric Subjective Global Nutritional Assessment (PSGNA) Form. The PSGNA is used to subjectively assess the nutritional status of children who may be at risk of malnutrition through a nutrition-focused physical exam. Loss of subcutaneous fat will be checked in the orbital, buccal area, upper arm, ribs/midaxillary, and buttocks. Loss of muscle mass in the temple region, clavicle bone, acromion bone, scapular bone and spine regions, anterior thigh, patellar, and calf will be assessed. Lastly, the presence of edema will also be evaluated in the foot, ankles, and sacral area. The classification to determine the risk of malnutrition is as follows:

• Normal/Well-nourished: No loss of subcutaneous fat and muscle mass, and no edema
• Moderate risk: Loss of subcutaneous fat and muscle mass is observed in at least one area, and/or with edema
• Severe risk: Loss of subcutaneous fat and muscle mass is observed in more than one area,

The mean age at diagnosis will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.

The mean age at onset of symptoms will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.

The mean age at the initiation of treatment will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.

The history of IEM in the family will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.

The current treatment will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form.

The presence of clinical presentations will be based on the latest available developmental assessment of the patients by their respective attending metabolic physician recorded in the medical charts kept in the NBSCCs. The clinical presentations to be documented include developmental delay/ intellectual disability, speech delay, seizures, long tract signs, hypotonia, no visual threat/dazzle, hyperactivity, microcephaly, drooling, esotropia, no reaction to sound, jitteriness, weakness, spasticity, quadriparesis, and others. This will be recorded in the medical chart extraction form.