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Absence of Serum Alanine Aminotransferase Activity in a Neonate

¹ Lab. of Clin. Chem. and Depts. of
² Pediatrics,
³ Pathol., and
⁴ Med. Genetics, University Hosp., B-9000 Gent, Belgium, and
⁵ Dept. of Pediatrics, ASZ, B-9300 Aalst, Belgium;
^a address for correspondence: Central Lab., 1B2, University Hosp. Gent, De Pintelaan 185, B-9000 Gent, Belgium, fax ##32/9/240.49.85, e-mail joris.delanghe@rug.ac.be

Oral–facial–digital syndrome II (Mohr syndrome) is an autosomal recessive syndrome characterized by bilateral polysyndactylia of the halluces, bilateral hexadactylia of the hands, lobed tongue, and multiple oral frenula and peculiar facies (1). Hitherto, no biochemical abnormalities have been associated with this syndrome.

The propositus is a Caucasian boy (mixed Flemish/German descent) born from an incestuous father–daughter relation. During the pregnancy, a marked intrauterine growth retardation was observed. At delivery, after a pregnancy of 40 weeks, the infant's height (35.0 cm), weight (2400 g), and head circumference (28.2 cm) were all below the first percentile. Diagnosis of Mohr syndrome was confirmed by the observation of polydactylia of the feet; syndactylia of toes 1–2 and 3–4 of both feet; bifid tongue tip with broad, short uvula; bilateral hexadactylia of the hands; and a peculiar facies with micrognathia and microcephaly. Furthermore, the vertebral body T11 was bifurcated and transfontanellar ultrasonography of the brain revealed slightly dilated lateral and third ventricles. Shortly after birth, transient tachypnea and feeding difficulties were present, which gradually disappeared. At the age of 6 weeks, a persistent jaundice was noticed: serum total bilirubin 166 µmol/L (reference interval 1–19 µmol/L) and conjugated bilirubin 115 µmol/L (reference interval 0–14 µmol/L). Stools did not contain bile pigments. Aspartate aminotransferase (AST) (240 U/L, reference interval 16–58 U/L), alkaline phosphatase (399 U/L, reference interval 225–370 U/L), and -glutamyltransferase (782 U/L, reference interval 11–49 U/L) were increased. L-Alanine aminotransferase (ALT, EC 2.6.1.2) activity (<1 U/L, reference interval 9–51 U/L) remained undetectable even after in vitro addition of pyridoxal-5'-phosphate (P-5'-P) to exclude ALT cofactor deficiency. Total protein (60 g/L) and albumin concentrations (41 g/L) were normal. Serum creatinine was 36 µmol/L (reference interval 27–53 µmol/L). Inflammatory variables C-reactive protein (14.1 mg/L, reference interval <5 mg/L) and leukocyte count (20.7 x 10⁹/L, reference . . . [Full Text of this Article]

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