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Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizures, psychomotor decline, and loss of vision. Methods We describe the clinical and molecular characteristics of four Russian patients with NCL (one female and three males, with ages ranging from 4 to 5 years). The clinical features of these patients include cognitive and motor deterioration, seizures, stereotypies, and magnetic resonance imaging signs of brain atrophy. Exome sequencing was performed to identify the genetic variants of patients with NCL. Additionally, we tested 6,396 healthy Russians for NCL alleles. Results We identified five distinct mutations in four NCL‐associated genes of which two mutations are novel. These include a novel homozygous frameshift mutation in the CLN6 gene, a compound heterozygous missense mutation in the KCTD7 gene, and previously known mutations in KCTD7, TPP1, and MFSD8 genes. Furthermore, we estimated the Russian population carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL. Conclusion Our study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype–phenotype correlations, and prognosis., 5 distinct mutations were identified in 4 NCL‐caused genes, of which two mutations are novel. Also carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL were estimated in Russian population.

Liver transplantation is an accepted treatment modality in the management of MSUD. To our knowledge, ours is only the second successful case to date of a patient with MSUD receiving an allograft from an RLD who is a heterozygous carrier for the disease. In view of the worldwide shortage of available organs for transplantation, heterozygote to homozygote transplantation in the setting of MSUD may provide a viable alternative for those awaiting transplantation. We report on the case of a two-yr-old infant with MSUD, who received a left lateral segment (segments II and III) liver transplant from his mother, a heterozygote carrier of one of the three abnormal genes implicated in MSUD. Post-operative BCAA levels normalized in our patient and remained so on an unrestricted protein diet and during times of physiological stress. To date, this is only the second case of a successful RLD liver transplant in a child with MSUD. Preliminary results indicate that RLD liver transplants are at least equivalent to deceased donor liver transplants in the treatment of MSUD, although longer term follow-up is required. Heterozygote to homozygote RLD transplant in patients with MSUD presents a new pool of potential liver donors.

Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH3). Living donor liver transplantation (LDLT) has been applied for the treatment of OTCD. This case series retrospectively reviewed two OTCD patients who experienced hyper-NH3 following LDLT. The first case was a 5-year-old girl who had onset of OTCD at 2 years of age. Ornithine transcarbamylase (OTC) enzyme activity was 62% for the donor and 15% for the recipient. The patient suffered from recurrence of hyper-NH3 within 2 months following LDLT. The second case was a 5-year-old girl who had onset of OTCD at 3 years of age. OTC enzyme activity was 42.6% for the donor and 9.7% for the recipient. The patient suffered hyper-NH3 for 12 days starting on the date of surgery. Both of the patients transiently required continuous veno-venous hemodialysis; however, they are currently doing well without intensive medical treatment. The use of asymptomatic OTCD heterozygous donors in LDLT has been accepted with careful examination. However, an OTCD heterozygous carrier donor should be avoided if there is another donor candidate, due to the potentially fatal condition of hyper-NH3 following LDLT.

Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high-resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.

Serum high density lipoprotein (HDL) from two patients with LCAT deficiency has been compared with HDL from normal subjects and HDL from a presumed heterozygous carrier. By two different immunological methods the concentration of -lipoprotein in serum of the patients was found to he about 25–30 % of the normal concentration. Patient HDL is cornpoked of two fractions, as shown previously. The first fraction contains particles of high molecular weight with an electrophoretic mobility slightly slower than that of normal HDL. The lipid content is 70%, and the concentrations of unesterified cholesterol and phospholipids are about 10–15 and 3–4 times that of normal HDL, respectively. The second fraction consists of particles of relatively low molecular weight with electrophoretic mobility faster than albumin. This fraction exhibits closc to normal concentrations of unesterified cholesterol and phospholipids. Esterified cholesterol or lysolccithin could he demonstrated in none of the fractions. HDL from the prewmed hetcrozygous carrier was normal as judged from immunoelectro-phoresis, gel filtration, electron microscopy. and lipid analyses.