Journal of Inherited Metabolic Disease: Vol 44, No 4

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IssueVolume 66, Issue 5
September 2025

Journal of Inherited Metabolic Disease

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Journal of Inherited Metabolic Disease: Volume 44, Issue 4

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ISSUE INFORMATION

Issue Information

EDITORIAL

The “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicine

LETTER TO THE EDITOR

Acute intermittent porphyria, givosiran, and homocysteine

REVIEW ARTICLES

Inborn disorders of the malate aspartate shuttle

Inherited disorders of complex lipid metabolism: A clinical review

ORIGINAL ARTICLES

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

Hand fine motor control in classic galactosemia

Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency

Creatine transport and pathological changes in creatine transporter deficient mice

Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata

Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells

In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

OBITUARY

Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020)

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