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Objectives: To study the role of protein sufficiency, age, calorie sufficiency, and phenylalanine levels in children with phenylketonuria (PKU) and determine how these affect linear growth., Methods: Age, growth measures, plasma prealbumin, and mean phenylalanine levels were analyzed from a chart review of 38 children with early and continuously treated PKU., Results: A regression model was calculated investigating the effects of prealbumin, age, body mass index, and mean phenylalanine level on height. In this model, plasma prealbumin of <20 was associated with a loss of 45 height percentiles, whereas age and body mass index also had smaller but statistically significant effects. Prealbumin was correlated with height and age such that children with lower prealbumin levels were shorter and younger. There was no significant correlation between age and height or mean plasma phenylalanine level and height. A prealbumin level of 20 mg/dL appeared to constitute a threshold level, below which height growth was very significantly impaired., Conclusions: There is a strong relation between protein insufficiency, as determined by plasma prealbumin levels, and linear growth impairment. We suggest that a plasma prealbumin level of at least 20 mg/dL is necessary for optimal growth in children with PKU.

We present the case of a 21-month-old child with hypoketotic hypoglycemic coma. The differential diagnosis initially included metabolic causes versus a toxicologic emergency (unripe ackee fruit poisoning). Using information obtained from the emergency department, the diagnosis was confirmed as the late-onset form of glutaric acidemia type II. This case illustrates the importance of emergency physicians in the diagnosis and management of children with inborn errors of metabolism.

We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion exchange chromatography). This disorder should be considered in the differential diagnosis of neonatal seizures.