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Menkes disease complicated by concurrent ACY1 deficiency: A case report.

ABSTRACT: Introduction: Menkes disease is an X-linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by increased urinary excretion of specific N-acetyl amino acids. Case presentation: We report an infant with neurological findings such as seizures, neurodevelopmental delay and hypotonia. Metabolic screening showed low serum copper and ceruloplasmin, and increased urinary excretion of several N-acetylated amino acids. Whole-exome sequencing analysis (WES) revealed the novel de novo variant c.3642_3649dup (p.Ala1217Aspfs*2) in the ATP7A gene, leading to a diagnosis of Menkes disease, and the simultaneous presence of the homozygous ACY1 variant c.1057C>T (p.Arg353Cys) causative of Aminoacylase-1 deficiency. Conclusion: Our patient had two rare conditions with different treatment courses but overlapping clinical features. The identified novel ATP7A mutation associated with Menkes disease expands the ATP7A gene spectrum.

SUBMITTER: Mauri A

PROVIDER: S-EPMC10017521 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Mauri Alessia A Saielli Laura Assunta LA Alfei Enrico E Iascone Maria M Marchetti Daniela D Cattaneo Elisa E Di Lauro Anna A Antonelli Laura L Alberti Luisella L Bonaventura Eleonora E Veggiotti Pierangelo P Spaccini Luigina L Cereda Cristina C

Frontiers in genetics 20230302

Introduction: Menkes disease is an X-linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by increased urinary excretion of specific N-acetyl amino acids. Case presentation: We report an infant with neurological findings such as seizures, neurodevelopmental delay and h ...[more]

PMID: 36936426

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Project description:BackgroundSystemic lupus erythematosus (SLE) is a systemic disease, which can bring damage to multiple organ systems. It is easily misdiagnosed as mechanical intestinal obstruction and treated by surgery, which not only brings physical pain to patients, but also increases their economic burden. On the other hand, Castleman disease (CD) is also a rare disease that can be easily missed clinically. Consequently, IPO in SLE complicated by CD is extremely rare in clinical practice and easily ignored for clinicians, which may result in delayed diagnosis, and treatment, and even overtreatment.Case descriptionAn 18-year-old Chinese woman presented with over a month's history of abdominal pain and fever, accompanied by abdominal distension and nausea. The patient was admitted to a local hospital before admission, and imaging test showed intestinal obstruction. After symptomatic treatment, abdominal pain was relieved, but symptoms reappeared about 20 days later. In addition, a red rash on face, light-sensitiveness and alopecia appeared 7 months prior to presentation. Physical examination showed a temperature of 38.9 ℃, facial butterfly erythema, enlarged axillary lymph nodes, lower abdominal tenderness, and diminished bowel sounds. Laboratory examinations showed proteinuria, decreased white blood cell, low C3 and low C4, positive antinuclear antibody (ANA), and positive anti-double-stranded DNA (anti-dsDNA). Abdominal noncontrast computed tomography (CT) showed partial small bowel obstruction. Chest contrast-enhanced CT showed multiple enlarged lymph nodes in the bilateral axillary and mediastinal areas. The results of the axillary lymph node biopsy were consistent with the typical histologic features of clear vascular CD. After glucocorticoid and immunosuppression therapy, the patient's immune indexes and proteinuria gradually returned to normal and abdominal pain did not recur during the follow up.ConclusionsIn order to avoid misdiagnosis of IPO in SLE and missed diagnosis of SLE complicated by CD, this case emphasizes the importance of medical history combined with appropriate laboratory examination, imaging examination and lymph node biopsy in SLE patients with lymphadenopathy for accurate diagnosis and reasonable treatment. At the same time, this case report aims to improve the diagnostic thinking of clinicians for similar patients.

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Menkes disease complicated by concurrent ACY1 deficiency: A case report.

Publications

Menkes disease complicated by concurrent ACY1 deficiency: A case report.

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