JIMD reports最新文献

{"title":"Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High-Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan","authors":"Chi-Tang Wu,&nbsp;Shih-Ju Huang,&nbsp;Chu-Chin Chen,&nbsp;Pao-Chin Chiu","doi":"10.1002/jmd2.70012","DOIUrl":"https://doi.org/10.1002/jmd2.70012","url":null,"abstract":"<p>In this report, we present the case of a 16-month-old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the <i>MTR</i> gene: (1) c.1283T&gt;A, p.Met428Lys; (2) c.2411T&gt;C, p.Ile804Thr. Before the diagnosis, the initial clinical presentation included failure to thrive, skin hyperpigmentation, hypotonia, seizures, and developmental delay. We initiated the treatment with high-dose parenteral hydroxocobalamin, oral betaine, and folinic acid at 5 months of age (right after receiving WES report). His symptoms, such as skin hyperpigmentation, seizure resolution, developmental delay, and anemia, improved rapidly after the treatment initiation. With treatment, his homocysteine levels declined rapidly and significantly from 117.08 μmol/L at 5 months to 20.23 μmol/L at 5 months and 2 weeks of age. Further, methionine levels increased with treatment from 9.26 μM at 5 months to 14.05 μM at 5 months and 2 weeks of age. The patient is currently receiving intramuscular hydroxocobalamin (2 mg/kg), oral betaine (200 mg/kg), and oral folinic acid (7.5 mg) daily without adverse effects. This case demonstrates the safety and efficacy of early high-dose parenteral hydroxocobalamin, and oral betaine and folinic acid treatment for cobalamin G deficiency. Moreover, given the patient's clinical manifestations, serologic data, and rapid response to therapy, the <i>MTR</i> gene variant previously classified as a VUS should be reclassified as pathogenic and necessitating early diagnosis and treatment.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143770332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report","authors":"Tomoki Saito,&nbsp;Kento Soma,&nbsp;Mai Kashisaka,&nbsp;Kiiko Iketani,&nbsp;Masaaki Matsumoto,&nbsp;Takuya Ueda,&nbsp;Masahiro Nishiyama,&nbsp;Azusa Maruyama,&nbsp;Ryosuke Nakai,&nbsp;Hiroshi Sakihama,&nbsp;Hiroshi Kurosawa,&nbsp;Naoya Morisada,&nbsp;Hironori Kobayashi,&nbsp;Kayo Ozaki","doi":"10.1002/jmd2.70014","DOIUrl":"https://doi.org/10.1002/jmd2.70014","url":null,"abstract":"<p>Systemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β-oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death. Early diagnosis and treatment, including L-carnitine supplementation and fasting avoidance, can improve prognosis. However, newborn screening (NBS) criteria differ by region, and standardized guidelines are lacking. This report presents a case of SPCD undetected by NBS, resulting in basal ganglia damage and dystonia due to metabolic decompensation. A 1-year-9-month-old girl with no abnormalities on NBS presented with impaired consciousness. She exhibited hypoketotic hypoglycemia, hyperammonemia, and myocardial hypertrophy. Suspecting a fatty acid metabolism disorder, L-carnitine and high-calorie infusion were initiated. Laboratory tests revealed markedly low serum total and free carnitine levels, and genetic analysis confirmed a homozygous <i>SLC22A5</i> mutation. Brain MRI on day 7 revealed bilateral basal ganglia and substantia nigra abnormalities. The patient developed severe dystonia and respiratory failure, requiring ECMO management. L-DOPA was initiated on day 62, resulting in improvements in dystonia, swallowing, and motor function. By day 88, MRI showed resolution of basal ganglia abnormalities, though cerebral atrophy persisted. Basal ganglia damage is a rare but severe SPCD complication. L-DOPA may alleviate dystonia by acting on dopaminergic neurons in the substantia nigra. Early ketone measurement during emergencies is crucial for diagnosing fatty acid metabolism disorders. A standardized NBS protocol with a defined carnitine cutoff value is essential for early detection and prevention of SPCD complications.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan","authors":"Nobuhiko Okamoto,&nbsp;Machiko Kadoya,&nbsp;Yoshinao Wada","doi":"10.1002/jmd2.70011","DOIUrl":"https://doi.org/10.1002/jmd2.70011","url":null,"abstract":"<p>Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation-related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from mild to severe. The phenotypic presentation of CDG can vary significantly. Identifying altered protein glycosylation is crucial for accurate diagnosis. Our research institute has contributed to the CDG diagnostic support center in Japan, developing new analytical techniques utilizing mass spectrometry. These techniques allow for the identification of defects in <i>N</i>-glycosylation, <i>O</i>-glycosylation, and combined glycosylation pathways. Advances in genetic analysis, including whole exome sequencing, have revealed that certain types of CDG are more prevalent than previously recognized. We have contributed to the molecular diagnosis of 66 CDG patients in Japan. Although PMM2-CDG is the most common form of CDG, it was only detected in 17% of the patients in the present study, suggesting that its incidence is much lower in Japan compared to European countries. We also conducted a comprehensive review of case reports of CDG in Japan, further describing the clinical and molecular spectrum of the disease in this population.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143770415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes","authors":"Anna K. Schoenlaub,&nbsp;Alexander Hoeller,&nbsp;Sabine Hofer,&nbsp;Edda Haberlandt,&nbsp;Elisabeth Steichen-Gersdorf,&nbsp;Daniela Karall,&nbsp;Dorottya Forster,&nbsp;Sabine Scholl-Bürgi","doi":"10.1002/jmd2.70007","DOIUrl":"https://doi.org/10.1002/jmd2.70007","url":null,"abstract":"<p>Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare inborn disorder of metabolism leading to encephalopathy due to disturbed glucose transport via the blood–brain-barrier and consecutive energy deficit of the brain. Since ketone bodies can serve as an alternative fuel for the brain, ketogenic diet therapies (KDT) are the treatment of choice for these patients. KDT refers to all forms of nutrition that lead to the formation of ketone bodies. We describe a 15-year-old girl with GLUT1-DS who was effectively treated with a form of KDT, a modified Atkins diet (MAD), and developed type 1 diabetes. After correction of the initial diabetic ketoacidosis (DKA), insulin pump treatment was started while staying on MAD. With this treatment regimen, no further DKA episodes occurred within 2 years of follow-up, current HbA1c 6.9%. Treatment of GLUT1-DS by KDT and type 1 diabetes (T1D) by insulin at the same time is challenging but feasible. The initial manifestation phase of T1D is critical and is made even more difficult by an already performed KDT. Target ranges for blood glucose AND β-hydroxybutyrate levels must be defined to optimize the insulin dosage. Additionally, patients, families, and caregivers need to be aware of the risk of this particular metabolic situation.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143698780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria","authors":"Yann Dos Santos,&nbsp;Patrick Emond,&nbsp;Ida Vanessa Doederlein Schwartz,&nbsp;Antoine Lefèvre,&nbsp;Camille Dupuy,&nbsp;Gabrielle Chicheri,&nbsp;Hélène Blasco,&nbsp;François Maillot","doi":"10.1002/jmd2.70010","DOIUrl":"https://doi.org/10.1002/jmd2.70010","url":null,"abstract":"<p>Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about systemic manifestations of PKU in adulthood. Fifteen adults with classic PKU with poor metabolic control and 15 matched healthy controls were recruited to compare their blood metabolomes by an untargeted multimodal approach (polar, apolar, and lipids) by LC/MS and a targeted approach to the tryptophan pathway. Targeted analysis revealed systemic serotonin hypometabolism and aberrant kynurenine metabolism, as well as potential implication of microbiota by differences in some indole compounds compared to controls. Untargeted analysis confirms previous findings regarding the TCA cycle, alanine aspartate glutamate metabolism, arginine and proline metabolism, and revealed some new metabolic perturbations such as arginine biosynthesis or glyoxylate and dicarboxylate metabolism. Future studies involving larger numbers of patients with varying degrees of metabolic control are needed to confirm these findings.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa","authors":"M. Dercksen,&nbsp;M. Perumal,&nbsp;E. Davoren,&nbsp;D. R. Reed,&nbsp;C. Murry-Maritz,&nbsp;R. van der Sluis,&nbsp;S. Mason","doi":"10.1002/jmd2.70005","DOIUrl":"https://doi.org/10.1002/jmd2.70005","url":null,"abstract":"<p>Primary trimethylaminuria (TMAU) is characterized by systemic accumulation of trimethylamine (TMA) due to the deficient activity of flavin-containing monooxygenase 3 (FMO3). The disorder does not have detrimental pathophysiological consequences, but patients develop psychological symptoms due to the emotionally debilitating bodily odor defined as decaying fish that affects their quality of life. Here, we illustrate the utility of a diagnostic workup on an adolescent with primary TMAU, including biochemical and genetic investigations that confirm the diagnosis. A direct substrate (TMA) loading protocol was used, followed by the collection of urine samples at predetermined intervals. The conversion of TMA to trimethylamine oxide (TMAO), monitored by ¹H-NMR spectrometry, showed a compromised FMO3 metabolic capacity at baseline, becoming more pronounced after loading commenced. The eight coding exons of the <i>FMO3</i> gene were Sanger sequenced, revealing a homozygous missense variant, c.23T&gt;C (p.Ile8Thr), as well as two known homozygous variants, c.472G&gt;A (p.Glu158Lys) and c.923A&gt;G (pGlu308Gly), associated with no to mild presentation of TMAU. The advantage of direct substrate-to-product monitoring is the elimination of alternative contributors to the odor that would result in the diagnosis of secondary TMAU. The combined functional and genetic approach provided adequate evidence to describe the first primary TMAU patient reported in sub-Saharan Africa with a genotype not yet described in a homozygous state. Our findings motivate a comprehensive biochemical and genetic approach to discriminate between primary and secondary TMAU. Subsequently, this targeted approach can provide advice on therapeutic management for optimal emotional well-being.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143602612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An atypical presentation in a child with propionic acidemia? Better think twice!","authors":"Tim Burkhardt,&nbsp;Katharine L. Kastor,&nbsp;Stine Christ,&nbsp;Thomas Opladen,&nbsp;Christian Staufner,&nbsp;Stefanie Beck-Wödl,&nbsp;Tobias Haack,&nbsp;Maja Hempel,&nbsp;Angelika Seitz,&nbsp;Stefan Kölker","doi":"10.1002/jmd2.12464","DOIUrl":"https://doi.org/10.1002/jmd2.12464","url":null,"abstract":"<p>This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonemia. The child's clinical course and neuroradiological findings increasingly deviated from the known clinical and neuroradiological spectrum of propionic acidemia. A rapid trio exome sequencing identified <i>SLC19A3</i>-related thiamine metabolism dysfunction syndrome 2 as a second genetic disease. The pathomechanisms of both diseases synergize in the impairment of brain energy metabolism, and the associated clinical phenotypes partially overlap, which explains the severe and atypical course of propionic acidemia in the reported case.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.12464","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143602611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby","authors":"Siew Li Ting,&nbsp;Yusnita Yakob,&nbsp;Huzaimah Abdullah Sani,&nbsp;Kavitha Rethanavelu,&nbsp;Lock Hock Ngu","doi":"10.1002/jmd2.70006","DOIUrl":"https://doi.org/10.1002/jmd2.70006","url":null,"abstract":"<p>Holocarboxylase synthetase (HLCS) is a rare autosomal recessive disorder of biotin metabolism. The mutation spectrum is known to correlate with clinical phenotypes and responsiveness to biotin therapy. Five patients diagnosed with HLCS deficiency between 2015 and 2024 were recruited. Their medical records were retrospectively analyzed for clinical, laboratory, and molecular data. The diagnosis was confirmed through urine organic acid analysis, acylcarnitine profiling of blood spots, and next-generation sequencing (NGS). All patients had skin rashes, either preceding metabolic decompensation or during follow-up. Four patients presented in a decompensated state with respiratory distress (100%, 4/4), seizures (50%, 2/4), metabolic acidosis (100%, 4/4), and encephalopathy (100%, 4/4). Most patients (4/5) had late-onset presentations and responded well to biotin. One patient died before treatment could be given. Of the four who survived, biotin doses of 10–30 mg daily maintained metabolic stability. The oldest patient, now 30 years old, was able to have two successful pregnancies with biotin dose adjustments. Molecular analysis identified 4 mutations: of these, c.1522C&gt;T (p.Arg508Trp) is a known recurrent biotin-responsive mutation, accounting for 50% of mutant alleles. The c.271del variant had not been previously reported in the literature. This is the first report of HLCS deficiency in a Malaysian population, highlighting the c.1522C&gt;T (p.Arg508Trp) variant as a target for rapid molecular screening. Most patients in this cohort have good outcomes from biotin supplementation, emphasizing the need for early intervention to prevent irreversible neurological damage.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143554759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach","authors":"Eleonore M. Corazolla,&nbsp;Mirjam Langeveld,&nbsp;Marion M. M. G. Brands,&nbsp;Barbara Sjouke,&nbsp;Carla E. M. Hollak","doi":"10.1002/jmd2.70003","DOIUrl":"https://doi.org/10.1002/jmd2.70003","url":null,"abstract":"<p>Despite life-long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about their treatments. Therapeutic options range from disease-specific, with varying levels of effectiveness, to purely supportive. This spectrum is illustrated by the three diseases Gaucher disease type 1 (effective disease-specific therapies), Fabry disease (disease-specific therapies with variable effectiveness), and mucopolysaccharidosis type III A/B (supportive care only). Employing the Necessity-Concerns Framework of the Beliefs in Medicine Questionnaire, we investigated intra- and intergroup variability in adults with Gaucher disease type 1, Fabry disease, and parents of children with mucopolysaccharidosis type III A/B. Participants rated <i>necessity</i> and <i>concern</i> items on a Likert scale, leading to categorization as <i>accepting</i>, <i>skeptical</i>, <i>indifferent</i>, or <i>ambivalent</i>. Self-reported demographic, disease-, and therapy-related data were also obtained. Eighty-one surveys were completed. Gaucher disease respondents (<i>n</i> = 15) were overwhelmingly categorized as <i>accepting</i> (high necessity, low concern). Female Fabry disease respondents (<i>n</i> = 43) were almost equally distributed over all categories except <i>accepting.</i> Male Fabry disease respondents (<i>n</i> = 16) were mostly <i>ambivalent</i> or <i>accepting</i>, indicating overall high necessity scores but varying concern. All mucopolysaccharidosis type III participants (<i>n</i> = 7) were categorized as <i>indifferent</i> (low necessity, low concern). The Beliefs in Medicine Questionnaire emerged as a valuable and feasibly employable tool for individual and group assessments in these populations. It reveals differences in beliefs aligned with current unmet medical needs. Expansion of this approach is warranted to optimize personalized counseling on therapeutic choices and to align drug development with the needs and beliefs of potential recipients.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review","authors":"Clara Sherlock,&nbsp;Kim Clarke,&nbsp;Norah Jordan","doi":"10.1002/jmd2.70000","DOIUrl":"https://doi.org/10.1002/jmd2.70000","url":null,"abstract":"<p>Recent advancements in new-born screening have reduced the risk of life-threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by young people with metabolic conditions and their families, to inform the development of supports that meet the needs of those linked with metabolic services. The electronic databases MEDLINE, CINAHL, PsychInfo, and Psychology and Behavioural Sciences Collection were searched for studies examining psychosocial challenges reported by families with inherited metabolic conditions, over the last two decades. Five-thousand sixty-seven articles were screened for relevance. Twenty-nine studies met the inclusion criteria. Study quality and reliability were independently assessed by two reviewers. Results highlighted the myriad of physical, social, psychological and practical challenges experienced by young people with metabolic conditions and their families. These challenges included social isolation, burden of care, and learning and emotional difficulties. Findings reiterate the importance of developing peer support groups and delivering psychoeducation to families, as well as the central role psychology and social work should play in metabolic MDTs, to improve families' experiences and outcomes.</p>","PeriodicalId":14930,"journal":{"name":"JIMD reports","volume":"66 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jmd2.70000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143489772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}