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Article

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Molecular genetics and metabolism - 1 Nov 2012

Honzík Tomáš, Magner Martin, Krijt Jakub, Sokolová Jitka, Vugrek Oliver, Belužić Robert, Barić Ivo, Hansíkova Hana, Elleder Milan, Veselá Kateřina, Bauerová Lenka, Ondrušková Nina, Ješina Pavel, Zeman Jiří, Kožich Viktor

Abstract excerpt

We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month...

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Source

Identifiers

PMID: 22959829
DOI: 10.1016/j.ymgme.2012.08.014

Genes

PMM2
AHCY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22959829-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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