Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.

Background: Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form.

Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospinal fluid neurotransmitter analysis performed at our centre. All cases had an elevated urine vanillactic acid and, in most cases, with N-acetylvanilalanine detected.

Is there an accurate method to measure metabolic requirement of institutionalized children with spastic cerebral palsy?

Objectives: This study hypothesized that there is no difference between energy expenditure measured by indirect calorimetry (IC) and that estimated by predicted formulas compared with the actual intake of children with spastic cerebral palsy (CP).

Methods: Fifteen children aged 3 to 18 years with spastic CP and associated complications were recruited. IC was used to measure mean energy expenditure (MEE) compared with 3 predicted equations for energy expenditure (PEE), including body surface area (BSA), the recommended daily allowance (RDA), and an equation designed specifically for patients with CP.

Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity.

The correct name of the eighth author should be given as Sik-To Lai, not Jak-Yiu Lai.

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced.

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e.

Esophageal eosinophilia in children with dysphagia.

Objectives: Children occasionally have dysphagia in the absence of an apparent primary cause. Esophageal eosinophilia is sometimes seen in these patients at the time of upper endoscopy but its significance is not clear. Although eosinophilia is regarded by some as a histologic hallmark of childhood reflux esophagitis, it may in fact signal a primary eosinophilic esophagitis in children with dysphagia.