A case of combined Farber and Sandhoff disease

We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured…

Clinical heterogeneity in infantile galactosialidosis

A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the liter…

Urinary glycosaminoglycans in Graves' ophthalmopathy.

An increased accumulation of glycosaminoglycans (GAG) in retrobulbar tissues has been reported in patients with thyroid eye disease. We examined the quantitative urinary GAG excretion in 101 patients with Graves' ophthalmopathy of different classes, 36 patients with Graves' hyperthyroidism without ophthalmopathy, 14 patients with toxic nodular goitre and 103 control subjects. Glycosaminoglycans were isolated from 24-h urine collections by precipitation with cetylpyridinium chloride and ethanol followed by photometrical quantification of hexuronic acids after reaction with carbazole. In comparison with the control group (15.8, 10.4, 21.6 mg/24 h; median, 25th, 75th percentile) a significant …

Galactose increase in an infant whose mother is heterozygous for peripheral uridine diphosphate galactose‐4‐epimerase deficiency

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

Hunter disease (McKusick 309900) is an X-chromosomal mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS; EC 3.1.6.13). Diagnosis is based on both the typical clinical features of patients and the lack/reduction of IDS activity. Female carriers show no symptoms of the disease. In the past, several different assays were elaborated for measuring enzyme activity in carriers but none of them proved to be suitable for detecting heterozygotes reliably (Zlotogora and Bach 1984)

Sarcosinaemia in a retarded, amaurotic child.

A 9-month-old Turkish girl demonstrated an abnormal qualitative amino acid excretion pattern suggestive of sarcosinaemia. She was blind and had evidence of developmental and motor retardation. No other physical abnormalities were noted. Quantitative amino acid analysis revealed elevated serum and urine sarcosine levels. An oral sarcosine loading test showed an exaggerated response with a delayed conversion to glycine. Sarcosine was undetected in other family members.