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Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.

Abstract Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms.
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Journal Title medicine
Publication Year Start




PMID- 29465562
OWN - NLM
STAT- MEDLINE
DCOM- 20180227
LR  - 20180227
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 8
DP  - 2018 Feb
TI  - Subacute onset leukodystrophy and visual-spatial disorders revealing
      phenylketonuria combined with homocysteinmia in adulthood: A case report.
PG  - e9801
LID - 10.1097/MD.0000000000009801 [doi]
AB  - RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a
      progressive irreversible neurological impairment during infancy and childhood.
      Hyperhomocysteinemia also showed that it might be involved in pathophysiology of 
      many neuropsychiatric disorders. The late-onset clinical manifestations of these 
      2 diseases have not been reported elsewhere. We speculated that the late-onset
      PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a
      short period of irregular diet directly caused clinical symptoms. PATIENT
      CONCERNS: A 21-year old Asian male patient demonstrated subacute leukodystrophy
      and visual-spatial disorders of late onset in adulthood. DIAGNOSES:
      Phenylketonuria combined with homocysteinmia, who presented with heterozygous
      mutations in gene encoding PAH p.G247R (c.739G>C) and p.Y204C (c.611A>G), along
      with homozygous mutation of gene encoding MTHFR c.677C>T. INTERVENTIONS: The
      patient was treated with cobalamine (500 mug/day), vitamin B6 (30 mg/day), folate
      (5 mg/day) and encouraged to follow a protein-restricted diet. OUTCOMES: Visual
      disorientation and cognitive function showed improvement. Head MR showed similar 
      resolution with the original lesion. Serum homocysteine and folate analysis were 
      normal with decreased phenylalanine level. LESSONS: This case suggests that
      neurological involvement of progressive nervous system dysfunction could be
      caused by more than one kind of inherited metabolic disturbances, and each one
      can induce or deteriorate the manifestations of another metabolic disorders.
FAU - Wang, Chunchen
AU  - Wang C
AD  - Department of Neurology & Acupuncture and Moxibustion Centre, Beijing Hospital of
      Traditional Chinese Medicine Affiliated to Capital Medical University, Beijing.
FAU - Li, Jieying
AU  - Li J
AD  - Department of Neurology, The Second People's Hospital of Guiyang, Guiyang,
      Guizhou, China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 12001-76-2 (Vitamin B Complex)
RN  - 8059-24-3 (Vitamin B 6)
RN  - 935E97BOY8 (Folic Acid)
RN  - P6YC3EG204 (Vitamin B 12)
SB  - AIM
SB  - IM
MH  - Folic Acid/therapeutic use
MH  - Humans
MH  - Hyperhomocysteinemia/*diagnosis/drug therapy/genetics
MH  - Leukoencephalopathies/*etiology
MH  - Male
MH  - Mutation
MH  - Phenylketonurias/*diagnosis/drug therapy/genetics
MH  - Vision Disorders/*etiology
MH  - Vitamin B 12/therapeutic use
MH  - Vitamin B 6/therapeutic use
MH  - Vitamin B Complex/therapeutic use
MH  - Young Adult
EDAT- 2018/02/22 06:00
MHDA- 2018/02/28 06:00
CRDT- 2018/02/22 06:00
PHST- 2018/02/22 06:00 [entrez]
PHST- 2018/02/22 06:00 [pubmed]
PHST- 2018/02/28 06:00 [medline]
AID - 10.1097/MD.0000000000009801 [doi]
AID - 00005792-201802230-00027 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Feb;97(8):e9801. doi: 10.1097/MD.0000000000009801.