Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ± 7.4 years) completed the study. Patients were prescribed a personalized high‐protein, high‐fat diet, comprising 3.0–3.5 g/kg/day of protein and 3.0–4.5 g/kg/day of fat, constituting 18.5%–28% and 70.5%–75.7% of daily energy, respectively. Dietary compliance was ensured and assessed via the regular administration of questionnaires. Our results revealed consistent and significant decreases of 22%, 54%, and 30% in the creatinine kinase, creatine kinase–myocardial band, and lactate dehydrogenase levels, respectively. Echocardiography revealed improvements in the Z‐scores of the left ventricular mass and interventricular septum thickness. A significant increase in body muscle mass was observed, and a higher score was achieved using the Daily Activity Questionnaire. Growth monitoring revealed an arrest in the height‐SDS at the 6th and 12th months, followed by subsequent improvement at the end of the second year. A gradual and persistent decline in the periods of hypo‐ and hyperglycemia has been reported. Biotinidase activity decreased, whereas hepatosteatosis increased and then decreased by the end of the study. Implementing a high‐protein, high‐fat diet and monitoring key parameters in patients with type IIIa GSD can lead to myopathic and cardiac improvements and increased physical activity.

Objectives Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of CDG patients from different subtypes. Methods The clinical and laboratory findings from the last 15 years were reviewed retrospectively in Ege University Child Metabolism and Nutrition Department. Results There were 8 (57.2 %) females and 6 (42.8 %) males. Diagnoses of the patients were PMM2-CDG (n=4), PGM1-CDG (n=2), DPAGT1-CDG (n=2), SRD5A3-CDG (n=2), MPI-CDG (n=1), POMT2-CDG (n=1), B3GALNT2-CDG (n=1), DPM1-CDG (n=1). The clinical findings of the patients were dysmorphia (85.7 %), developmental delay (85.7 %), intellectual disability (85.7 %), ocular abnormalities (64.2 %), skeletal malformations (64.2 %), failure to thrive (57.1 %), microcephaly (57.1 %), hepatomegaly (35.7 %), hearing loss (35.7 %), seizures (28.5 %), gastrointestinal symptoms (21.4 %), endocrine abnormalities (21.4 %), and cardiac abnormalities (7.1 %). Laboratory findings were abnormal TIEF (92.8 %), abnormal liver enzymes (64.2 %), decreased protein C (64.2 %), decreased antithrombin III (64.2 %), decreased protein S (42.8 %), hypogammaglobulinemia (35.7 %), cerebellar hypoplasia (28.5 %), CK elevation (7.1 %), and hypoglycemia (7.1 %). Conclusions This study contributes to the literature by sharing our ultra-rare DPM1-CDG case with less than 20 cases in the literature and expanding the clinical and molecular characteristics of other CDG patients. Hyperinsulinemic hypoglycemia, short stature, hypothyroidism, growth hormone deficiency, hypogammaglobulinemia, pericardial effusion, elevated CK, congenital myasthenia, and anorectal malformation were unique findings that were observed. Cerebello-ocular findings accompanying multi-organ involvement were an essential clue for a possible CDG.

Long-chain fatty acid oxidation disorders (LC-FAOD) are a rare metabolic condition that results in impaired fatty acid utilization, leading to metabolic crises, hospitalization, and reduced quality of life. Despite dietary management, many patients experience ongoing complications. Triheptanoin, a seven-carbon triglyceride, has emerged as a therapeutic alternative by providing an energy source and supporting metabolic stability. This study aims to evaluate the clinical outcomes of LC-FAOD patients receiving triheptanoin therapy in Türkiye. A retrospective nationwide study was conducted to analyze 14 patients with LC-FAOD who received oral triheptanoin as part of a compassionate use program in Türkiye. The study collected data on emergency department visits, hospitalizations, metabolic decompensation episodes, creatine kinase (CK) levels, hypoglycemia, and cardiac function. Additionally, patient-reported outcomes were assessed through surveys. The findings of the study demonstrated that triheptanoin treatment led to a significant reduction in the number of emergency service applications and hospitalizations per month (p < 0.01). A notable decrease in the frequency of myalgia attacks was observed, while the decline in rhabdomyolysis episodes did not reach statistical significance. Furthermore, creatine kinase levels during metabolic crises exhibited a substantial decrease following triheptanoin therapy (p < 0.0001).Among patients with cardiomyopathy, cardiac function showed improvement in four out of seven patients. Survey data indicated an improvement in appetite, physical performance, and overall quality of life. Conclusion: Triheptanoin treatment has been demonstrated to be associated with significant clinical improvements in patients diagnosed with LC-FAOD, including a reduction in the frequency of emergency department visits, hospitalizations, and metabolic crises. These findings provide support for the utilization of triheptanoin as a therapeutic approach that holds promise in the management of LC-FAOD. What is Known: • Long-chain fatty acid oxidation disorders (LC-FAOD) are associated with significant morbidity due to metabolic crises, despite conventional dietary treatment including medium-chain triglycerides (MCT). What is New: • This nationwide study demonstrates that triheptanoin therapy significantly reduces emergency visits, hospitalizations, and creatine kinase levels during crises, and improves patient-reported outcomes, including physical activity and quality of life, in LC-FAOD patients in Türkiye.

Objectives: Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the GNPTAB (ML III α/β) and GNPTG (ML III γ) genes, leading to impaired lysosomal enzyme trafficking. These disorders manifest as progressive multisystem diseases with skeletal, neurological, cardiovascular, and respiratory involvement. This study aims to characterise pediatric patients’ clinical, biochemical, genetic, and radiological findings with ML II α/β and IIIα/β or γ to enhance understanding of disease diagnosis and progression. Methods: This retrospective cohort study included 19 pediatric patients (15 ML II α/β, 3 ML III γ, 1 ML III α/β) diagnosed at a tertiary referral center. Clinical data, including facial dysmorphism, skeletal abnormalities, organomegaly, cardiovascular involvement, and neurological findings, were recorded at baseline and follow-up. Biochemical analysis included urinary glycosaminoglycan (GAG) levels and lysosomal enzyme activities. For molecular diagnostics, next-generation sequencing (NGS) was utilized using a targeted gene panel that contained GNPTG and GNPTAB leukocytes from peripheral blood were used to harvest genomic DNA. Following the 2015 ACMG/AMP standards, variant interpretation was carried out by evaluating pathogenicity using in silico prediction methods, population frequency data, and segregation analysis. Radiological findings were evaluated via skeletal X-rays and brain MRI. Results: The median age at diagnosis was 8 months (range: 1 day–252 months), with a consanguinity rate of 63.1 %. ML II α/β patients presented earlier and had more severe findings, including coarse facies, respiratory tract involvement, cardiac abnormalities, and joint contractures. Cardiac valve disease, kyphosis, and progressive hearing loss were frequent. The most common mutation in GNPTAB was c.3503_3504delTC in ML II α/β, while GNPTG variants were linked to ML III γ. Radiologic findings often included hip dysplasia; brain MRIs showed callosal and subarachnoid abnormalities in a few cases. Median survival in ML II α/β was 28 months, mainly due to respiratory failure. Enzyme assays revealed elevated β-hexosaminidase A and A+B, α-D-mannosidase, and α-L-fucosidase activities in both leukocyte and DBS samples, consistent with molecular diagnoses. Conclusions: In addition to reporting six novel GNPTAB/GNPTG mutations, this study highlights the diagnostic potential of dried blood spot (DBS) samples, where elevated lysosomal enzyme activity may offer a valuable, minimally invasive screening method for ML II/III.